Variant report

Variant	rs1293295
Chromosome Location	chr8:11711149-11711150
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MBD4	chr8:11710454-11711868	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:11709880-11711785	HepG2	liver:	n/a	n/a
3	POLR2A	chr8:11710067-11711300	K562	blood:	n/a	n/a
4	POLR2A	chr8:11710837-11711945	IMR90	lung:	n/a	n/a
5	POLR2A	chr8:11709890-11711820	ECC-1	luminal epithelium:	n/a	n/a
6	MYBL2	chr8:11710206-11711935	HepG2	liver:	n/a	n/a
7	MXI1	chr8:11710999-11712083	IMR90	lung:	n/a	n/a
8	MXI1	chr8:11710307-11711889	HepG2	liver:	n/a	n/a
9	POLR2A	chr8:11710260-11711243	MCF-7	breast:	n/a	n/a
10	POLR2A	chr8:11709082-11711980	HepG2	liver:	n/a	n/a
11	POLR2A	chr8:11709121-11711899	K562	blood:	n/a	n/a
12	POLR2A	chr8:11710114-11711913	HUVEC	blood vessel:	n/a	n/a
13	TCF12	chr8:11711149-11712038	SK-N-SH	brain:	n/a	n/a
14	JUND	chr8:11710471-11712052	SK-N-SH	brain:	n/a	chr8:11710695-11710703 chr8:11711662-11711674 chr8:11710695-11710702 chr8:11711662-11711673 chr8:11711663-11711673 chr8:11711628-11711639 chr8:11711663-11711673 chr8:11711663-11711673 chr8:11711630-11711639 chr8:11711660-11711671 chr8:11711663-11711673 chr8:11710693-11710704 chr8:11710695-11710703 chr8:11711141-11711150 chr8:11710696-11710707 chr8:11711664-11711672
15	SP1	chr8:11710424-11712077	HCT-116	colon:	n/a	chr8:11710500-11710509 chr8:11711138-11711150 chr8:11711139-11711153 chr8:11711138-11711150 chr8:11711140-11711149 chr8:11710498-11710510 chr8:11710673-11710683 chr8:11711139-11711148 chr8:11711139-11711148
16	SP1	chr8:11710718-11712147	HCT-116	colon:	n/a	chr8:11711138-11711150 chr8:11711139-11711153 chr8:11711138-11711150 chr8:11711140-11711149 chr8:11711139-11711148 chr8:11711139-11711148
17	GATA3	chr8:11711148-11712015	MCF-7	breast:	n/a	n/a
18	POLR2A	chr8:11709901-11711881	HepG2	liver:	n/a	n/a
19	MAX	chr8:11710438-11711773	HepG2	liver:	n/a	chr8:11710695-11710704 chr8:11711629-11711638
20	HEY1	chr8:11710527-11711166	HepG2	liver:	n/a	n/a
21	POLR2A	chr8:11710076-11711880	HepG2	liver:	n/a	n/a
22	SRF	chr8:11711129-11712083	HCT-116	colon:	n/a	n/a
23	POLR2A	chr8:11710692-11711955	K562	blood:	n/a	n/a
24	POLR2A	chr8:11709987-11711537	H1-neurons	neurons:	n/a	n/a
25	POLR2A	chr8:11709635-11712328	HepG2	liver:	n/a	n/a
26	HMGN3	chr8:11711117-11711881	K562	blood:	n/a	chr8:11711665-11711674
27	POLR2A	chr8:11711147-11711837	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr8:11709943-11711914	MCF10A-Er-Src	breast:	n/a	n/a
29	CHD1	chr8:11710766-11712015	IMR90	lung:	n/a	chr8:11711747-11711757
30	JUND	chr8:11710389-11712077	HCT-116	colon:	n/a	chr8:11710695-11710703 chr8:11711662-11711674 chr8:11710695-11710702 chr8:11711662-11711673 chr8:11711663-11711673 chr8:11711628-11711639 chr8:11711663-11711673 chr8:11711663-11711673 chr8:11711630-11711639 chr8:11711660-11711671 chr8:11711663-11711673 chr8:11710693-11710704 chr8:11710695-11710703 chr8:11711141-11711150 chr8:11710696-11710707 chr8:11711664-11711672
31	POLR2A	chr8:11710030-11711986	U87	brain:	n/a	n/a
32	POLR2A	chr8:11709909-11711265	ECC-1	luminal epithelium:	n/a	n/a
33	FOSL1	chr8:11710941-11712088	HCT-116	colon:	n/a	chr8:11711628-11711639 chr8:11711662-11711674 chr8:11711663-11711673 chr8:11711662-11711673 chr8:11711663-11711673 chr8:11711663-11711673 chr8:11711630-11711639 chr8:11711660-11711671 chr8:11711663-11711673 chr8:11711141-11711150 chr8:11711664-11711672
34	CEBPB	chr8:11711101-11712030	HCT-116	colon:	n/a	n/a
35	POLR2A	chr8:11710225-11711204	K562	blood:	n/a	n/a
36	POLR2A	chr8:11710036-11711980	U87	brain:	n/a	n/a
37	EP300	chr8:11710523-11711858	HepG2	liver:	n/a	n/a
38	POLR2A	chr8:11700506-11713198	SK-N-MC	brain:	n/a	n/a
39	MYBL2	chr8:11710400-11711904	HepG2	liver:	n/a	n/a
40	NFIC	chr8:11710682-11711857	HepG2	liver:	n/a	chr8:11711605-11711633
41	MAX	chr8:11710357-11712061	A549	lung:	n/a	chr8:11710695-11710704 chr8:11711629-11711638
42	EP300	chr8:11711089-11712008	ECC-1	luminal epithelium:	n/a	n/a
43	SIN3AK20	chr8:11711102-11711925	MCF-7	breast:	n/a	n/a
44	NFIC	chr8:11710431-11711198	HepG2	liver:	n/a	n/a
45	POLR2A	chr8:11709948-11711923	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr8:11710017-11711966	HepG2	liver:	n/a	n/a
47	POLR2A	chr8:11711080-11711920	HCT-116	colon:	n/a	n/a
48	POLR2A	chr8:11710524-11712036	MCF10A-Er-Src	breast:	n/a	n/a
49	HEY1	chr8:11711122-11711774	HepG2	liver:	n/a	n/a
50	FOSL2	chr8:11709951-11711913	HepG2	liver:	n/a	chr8:11710695-11710703 chr8:11711662-11711674 chr8:11710695-11710702 chr8:11711663-11711673 chr8:11711663-11711673 chr8:11711663-11711673 chr8:11711630-11711639 chr8:11711660-11711671 chr8:11711663-11711673 chr8:11710695-11710703 chr8:11711627-11711638 chr8:11711141-11711150 chr8:11710696-11710707 chr8:11711664-11711672

No.	Distal block	Cell Line	Cell type
1	chr8:11710197..11714536-chr8:11724997..11727273,4	K562	blood:
2	chr8:11706164..11707709-chr8:11709253..11711783,2	K562	blood:
3	chr8:11708512..11715317-chr8:11723234..11727095,9	MCF-7	breast:
4	chr8:11710836..11712408-chr8:11724380..11726355,2	MCF-7	breast:
5	chr8:11709901..11713097-chr8:11718255..11721625,5	MCF-7	breast:
6	chr8:11665243..11667469-chr8:11710761..11712863,3	MCF-7	breast:
7	chr8:11708825..11713035-chr8:11718721..11724039,7	MCF-7	breast:
8	chr8:11701923..11705144-chr8:11709953..11712815,3	K562	blood:

Variant related genes	Relation type
CTSB	TF binding region
ENSG00000269899	Chromatin interaction
ENSG00000079459	Chromatin interaction
ENSG00000164733	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1122182	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780453	1.00[ASN][1000 genomes]
rs1293289	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1293290	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1293292	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1293294	1.00[ASN][1000 genomes]
rs1293296	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1293298	1.00[ASN][1000 genomes]
rs1293300	1.00[ASN][1000 genomes]
rs1293301	1.00[ASN][1000 genomes]
rs1293308	1.00[ASN][1000 genomes]
rs1293327	1.00[ASN][1000 genomes]
rs1293331	1.00[ASN][1000 genomes]
rs1296025	1.00[ASN][1000 genomes]
rs1296026	1.00[ASN][1000 genomes]
rs1692811	1.00[ASN][1000 genomes]
rs1692812	1.00[ASN][1000 genomes]
rs1692814	1.00[ASN][1000 genomes]
rs1692817	1.00[ASN][1000 genomes]
rs1692819	1.00[ASN][1000 genomes]
rs1692821	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1736065	1.00[ASN][1000 genomes]
rs1736081	1.00[ASN][1000 genomes]
rs1736082	1.00[ASN][1000 genomes]
rs1736083	1.00[ASN][1000 genomes]
rs1736085	1.00[ASN][1000 genomes]
rs1736086	1.00[ASN][1000 genomes]
rs1736089	1.00[ASN][1000 genomes]
rs1736103	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2010629	1.00[ASN][1000 genomes]
rs2645417	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2740592	1.00[ASN][1000 genomes]
rs2740594	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2740595	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35304870	1.00[ASN][1000 genomes]
rs3947	1.00[ASN][1000 genomes]
rs4839	1.00[ASN][1000 genomes]
rs709821	1.00[ASN][1000 genomes]
rs709822	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831946	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv1032739	chr8:11643803-11716473	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1034132	chr8:11657033-12198242	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
15	nsv890365	chr8:11666451-11735641	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv890366	chr8:11666451-11900847	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	nsv1031158	chr8:11666558-11759064	Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv539477	chr8:11666558-11759064	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv1018042	chr8:11667496-11882385	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
20	nsv890367	chr8:11668153-11793529	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	nsv890368	chr8:11671041-11718528	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv890369	chr8:11671041-11840011	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
23	nsv1016952	chr8:11679271-11849955	Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
24	nsv1029093	chr8:11679271-11858466	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
25	nsv539478	chr8:11679271-11858466	Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
26	nsv1017334	chr8:11688534-11732949	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
27	nsv539479	chr8:11688534-11732949	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
28	nsv1019738	chr8:11696393-11732949	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
29	nsv539480	chr8:11696393-11732949	Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
30	nsv1031972	chr8:11696393-11805961	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
31	nsv539481	chr8:11696393-11805961	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
32	esv34042	chr8:11698337-11726817	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
33	nsv610293	chr8:11698747-11929734	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
34	nsv516685	chr8:11698747-12570199	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
35	nsv972525	chr8:11706325-11714357	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1293295	CTSB	cis	Artery Tibial	GTEx
rs1293295	CTSB	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11675800-11712600	Strong transcription	Dnd41	blood
2	chr8:11677600-11711800	Strong transcription	Fetal Brain Female	brain
3	chr8:11679000-11715200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:11682200-11713000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:11682400-11712600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:11683000-11713200	Strong transcription	Primary B cells from peripheral blood	blood
7	chr8:11683400-11711600	Strong transcription	Brain Germinal Matrix	brain
8	chr8:11683600-11712600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr8:11691600-11711200	Strong transcription	Spleen	Spleen
10	chr8:11692000-11711200	Strong transcription	Fetal Thymus	thymus
11	chr8:11698600-11716600	Strong transcription	Primary T cells from cord blood	blood
12	chr8:11700000-11711200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:11700600-11721200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:11703000-11721200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:11703400-11718800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:11704400-11715600	Weak transcription	GM12878-XiMat	blood
17	chr8:11704600-11711200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr8:11705200-11722400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:11705200-11723000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:11706600-11724400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:11706800-11723000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:11706800-11724400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:11707400-11711200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:11707600-11713400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr8:11708400-11713200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr8:11708600-11711400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:11708600-11716200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr8:11708600-11718200	Weak transcription	Aorta	Aorta
29	chr8:11708600-11724600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:11709400-11718200	Weak transcription	Fetal Kidney	kidney
31	chr8:11709800-11712000	Genic enhancers	Placenta	Placenta
32	chr8:11710000-11711200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:11710000-11711200	Genic enhancers	Gastric	stomach
34	chr8:11710000-11711400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:11710000-11711800	Enhancers	Right Atrium	heart
36	chr8:11710000-11712000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:11710000-11712000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:11710000-11712200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr8:11710000-11712200	Genic enhancers	Lung	lung
40	chr8:11710000-11713000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:11710000-11714000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:11710200-11711200	Genic enhancers	HMEC	breast
43	chr8:11710200-11712000	Enhancers	Ovary	ovary
44	chr8:11710200-11712400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
45	chr8:11710200-11712600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:11710200-11712800	Enhancers	Placenta Amnion	Placenta Amnion
47	chr8:11710200-11713000	Genic enhancers	Fetal Intestine Large	intestine
48	chr8:11710200-11713200	Genic enhancers	Fetal Intestine Small	intestine
49	chr8:11710400-11711200	Genic enhancers	Brain Substantia Nigra	brain
50	chr8:11710400-11711200	Enhancers	Fetal Brain Male	brain

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