Variant report

Variant	rs1803250
Chromosome Location	chr8:11710174-11710175
allele	A/C/G/T
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	POLR2A	chr8:11710150-11710891	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:11709880-11711785	HepG2	liver:	n/a	n/a
3	POLR2A	chr8:11709978-11710376	HepG2	liver:	n/a	n/a
4	POLR2A	chr8:11710067-11711300	K562	blood:	n/a	n/a
5	POLR2A	chr8:11709890-11711820	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr8:11709082-11711980	HepG2	liver:	n/a	n/a
7	POLR2A	chr8:11709121-11711899	K562	blood:	n/a	n/a
8	POLR2A	chr8:11710114-11711913	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr8:11709809-11710496	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr8:11709952-11710323	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr8:11709901-11711881	HepG2	liver:	n/a	n/a
12	POLR2A	chr8:11709977-11710475	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr8:11710076-11711880	HepG2	liver:	n/a	n/a
14	POLR2A	chr8:11709987-11711537	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr8:11709635-11712328	HepG2	liver:	n/a	n/a
16	POLR2A	chr8:11709943-11711914	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr8:11710061-11710366	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr8:11710030-11711986	U87	brain:	n/a	n/a
19	POLR2A	chr8:11709909-11711265	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr8:11710036-11711980	U87	brain:	n/a	n/a
21	POLR2A	chr8:11700506-11713198	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr8:11710057-11710225	MCF-7	breast:	n/a	n/a
23	POLR2A	chr8:11709948-11711923	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr8:11710017-11711966	HepG2	liver:	n/a	n/a
25	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
26	BRCA1	chr8:11710082-11710233	HepG2	liver:	n/a	n/a
27	POLR2A	chr8:11709958-11711004	HL-60	blood:	n/a	n/a
28	POLR2A	chr8:11709945-11711267	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11706164..11707709-chr8:11709253..11711783,2	K562	blood:
2	chr8:11708512..11715317-chr8:11723234..11727095,9	MCF-7	breast:
3	chr8:11709901..11713097-chr8:11718255..11721625,5	MCF-7	breast:
4	chr8:11708825..11713035-chr8:11718721..11724039,7	MCF-7	breast:
5	chr8:11701923..11705144-chr8:11709953..11712815,3	K562	blood:

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

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1138666	0.86[AMR][1000 genomes]
rs12543666	0.84[AMR][1000 genomes]
rs17814360	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2409834	0.86[AMR][1000 genomes]
rs3088244	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34809309	0.84[AMR][1000 genomes]
rs4442098	0.86[AMR][1000 genomes]
rs57720356	0.84[AMR][1000 genomes]
rs57725348	0.82[AMR][1000 genomes]
rs58164566	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6984049	0.82[AMR][1000 genomes]
rs7011491	0.82[AMR][1000 genomes]
rs73549728	0.84[AMR][1000 genomes]
rs73549729	0.84[AMR][1000 genomes]
rs7818952	0.84[AMR][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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11667000-11711000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:11675800-11712600	Strong transcription	Dnd41	blood
3	chr8:11677600-11710600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:11677600-11711800	Strong transcription	Fetal Brain Female	brain
5	chr8:11679000-11715200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr8:11679200-11710400	Strong transcription	NHDF-Ad	bronchial
7	chr8:11679200-11710800	Strong transcription	Fetal Stomach	stomach
8	chr8:11682200-11713000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:11682400-11712600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:11683000-11713200	Strong transcription	Primary B cells from peripheral blood	blood
11	chr8:11683400-11711600	Strong transcription	Brain Germinal Matrix	brain
12	chr8:11683600-11712600	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr8:11685600-11710600	Strong transcription	HSMM	muscle
14	chr8:11690400-11710200	Strong transcription	Fetal Intestine Large	intestine
15	chr8:11691600-11710600	Strong transcription	Pancreas	Pancrea
16	chr8:11691600-11711200	Strong transcription	Spleen	Spleen
17	chr8:11691800-11710600	Strong transcription	HSMMtube	muscle
18	chr8:11691800-11711000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:11692000-11711000	Strong transcription	Fetal Muscle Leg	muscle
20	chr8:11692000-11711200	Strong transcription	Fetal Thymus	thymus
21	chr8:11692200-11711000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr8:11692400-11710600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr8:11693400-11710400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:11695400-11710600	Strong transcription	Osteobl	bone
25	chr8:11698600-11716600	Strong transcription	Primary T cells from cord blood	blood
26	chr8:11698800-11711000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr8:11699000-11710800	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr8:11699200-11710600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:11699200-11710600	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr8:11699400-11710400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr8:11700000-11711200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:11700600-11721200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:11701200-11710400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:11702200-11710400	Weak transcription	Hela-S3	cervix
35	chr8:11702400-11710400	Weak transcription	Fetal Brain Male	brain
36	chr8:11702600-11710400	Weak transcription	Fetal Heart	heart
37	chr8:11703000-11721200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr8:11703400-11710800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr8:11703400-11718800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr8:11704200-11710200	Strong transcription	Rectal Smooth Muscle	rectum
41	chr8:11704200-11710400	Weak transcription	K562	blood
42	chr8:11704200-11710600	Strong transcription	Brain Hippocampus Middle	brain
43	chr8:11704200-11710800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr8:11704400-11711000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr8:11704400-11715600	Weak transcription	GM12878-XiMat	blood
46	chr8:11704600-11710600	Strong transcription	Colon Smooth Muscle	Colon
47	chr8:11704600-11711200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr8:11705200-11722400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:11705200-11723000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr8:11705800-11710200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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