Variant report

Variant	rs1293301
Chromosome Location	chr8:11665704-11665705
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:152)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:152 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:11665596-11666101	H1-hESC	embryonic stem cell:	n/a	chr8:11665842-11665855 chr8:11666033-11666046
2	CTCF	chr8:11665700-11665850	HBMEC	blood vessel:	n/a	n/a
3	YY1	chr8:11665581-11666216	HepG2	liver:	n/a	n/a
4	CTCF	chr8:11665620-11665770	HAc	cerebellar:	n/a	n/a
5	CTCF	chr8:11665680-11665830	HPAF	blood vessel:	n/a	n/a
6	WRNIP1	chr8:11665432-11665760	GM12878	blood:	n/a	n/a
7	POLR2A	chr8:11665380-11666439	H1-hESC	embryonic stem cell:	n/a	n/a
8	TBP	chr8:11665645-11666089	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr8:11665627-11665965	HepG2	liver:	n/a	n/a
10	PAX5	chr8:11665683-11665928	GM12878	blood:	n/a	chr8:11665849-11665868
11	CTCF	chr8:11665600-11665750	GM12874	blood:	n/a	n/a
12	POLR2A	chr8:11665486-11666181	GM12892	blood:	n/a	n/a
13	POLR2A	chr8:11665534-11666178	HEK293	kidney:	n/a	n/a
14	POLR2A	chr8:11665391-11666095	U87	brain:	n/a	n/a
15	CTCF	chr8:11665660-11665810	HepG2	liver:	n/a	n/a
16	POLR2A	chr8:11665563-11666050	U87	brain:	n/a	n/a
17	YY1	chr8:11665644-11666078	GM12878	blood:	n/a	n/a
18	POLR2A	chr8:11665635-11666091	MCF-7	breast:	n/a	n/a
19	CTCF	chr8:11665700-11665850	AG09319	gingival:	n/a	n/a
20	TAF1	chr8:11665571-11665956	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr8:11665162-11665954	HepG2	liver:	n/a	n/a
22	POLR2A	chr8:11665568-11665883	GM12892	blood:	n/a	n/a
23	REST	chr8:11665574-11665889	HepG2	liver:	n/a	n/a
24	REST	chr8:11665125-11665935	A549	lung:	n/a	n/a
25	POLR2A	chr8:11665622-11665873	K562	blood:	n/a	n/a
26	BRCA1	chr8:11665673-11665862	HepG2	liver:	n/a	n/a
27	CTCF	chr8:11665700-11665850	HMEC	breast:	n/a	n/a
28	POLR2A	chr8:11664775-11666889	MCF10A-Er-Src	breast:	n/a	n/a
29	JUND	chr8:11665638-11665852	H1-hESC	embryonic stem cell:	n/a	n/a
30	UBTF	chr8:11665646-11665866	K562	blood:	n/a	n/a
31	STAT1	chr8:11665612-11665826	GM12878	blood:	n/a	n/a
32	POLR2A	chr8:11665556-11665964	GM12892	blood:	n/a	n/a
33	TAF1	chr8:11665492-11666018	A549	lung:	n/a	n/a
34	POLR2A	chr8:11665604-11665993	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr8:11665396-11666911	PBDE	blood:	n/a	n/a
36	POLR2A	chr8:11664843-11666654	SK-N-MC	brain:	n/a	n/a
37	CTCF	chr8:11665600-11665750	GM12865	blood:	n/a	n/a
38	MAZ	chr8:11665567-11666022	GM12878	blood:	n/a	n/a
39	ELF1	chr8:11665629-11666353	GM12878	blood:	n/a	n/a
40	NFATC1	chr8:11665360-11666186	GM12878	blood:	n/a	n/a
41	RUNX3	chr8:11665625-11665948	GM12878	blood:	n/a	n/a
42	POLR2A	chr8:11665299-11666403	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr8:11665600-11665750	NHDF-neo	bronchial:	n/a	n/a
44	TBP	chr8:11665609-11665985	HepG2	liver:	n/a	n/a
45	CTCF	chr8:11665660-11665810	GM12871	blood:	n/a	n/a
46	POLR2A	chr8:11665411-11666120	HepG2	liver:	n/a	n/a
47	CTCF	chr8:11665680-11665830	HEK293	kidney:	n/a	n/a
48	CTCF	chr8:11665560-11665710	NHDF-neo	bronchial:	n/a	n/a
49	POLR2A	chr8:11665500-11665915	GM12878	blood:	n/a	n/a
50	POLR2A	chr8:11665692-11666219	A549	lung:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:11658127..11661675-chr8:11664375..11667732,3	K562	blood:
2	chr8:11658330..11660255-chr8:11664033..11666074,2	MCF-7	breast:
3	chr8:11665243..11667469-chr8:11710761..11712863,3	MCF-7	breast:
4	chr8:11625432..11628777-chr8:11664764..11667821,4	MCF-7	breast:
5	chr8:11663695..11667740-chr8:11686501..11689379,3	MCF-7	breast:
6	chr8:11658229..11662389-chr8:11662980..11669380,10	MCF-7	breast:
7	chr8:11664303..11666890-chr8:11705423..11707941,2	MCF-7	breast:

No data

Variant related genes	Relation type
FDFT1	TF binding region
ENSG00000154328	Chromatin interaction
ENSG00000079459	Chromatin interaction
ENSG00000164733	Chromatin interaction
ENSG00000255046	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1122182	1.00[ASN][1000 genomes]
rs11780453	1.00[ASN][1000 genomes]
rs1293289	1.00[ASN][1000 genomes]
rs1293290	1.00[ASN][1000 genomes]
rs1293292	1.00[ASN][1000 genomes]
rs1293294	1.00[ASN][1000 genomes]
rs1293295	1.00[ASN][1000 genomes]
rs1293296	1.00[ASN][1000 genomes]
rs1293298	1.00[ASN][1000 genomes]
rs1293300	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]
rs13276352	0.85[EUR][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	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	1.00[ASN][1000 genomes]
rs2010629	1.00[ASN][1000 genomes]
rs2645417	1.00[ASN][1000 genomes]
rs2740592	1.00[ASN][1000 genomes]
rs2740594	1.00[ASN][1000 genomes]
rs2740595	1.00[ASN][1000 genomes]
rs3947	1.00[ASN][1000 genomes]
rs4839	1.00[ASN][1000 genomes]
rs709821	1.00[ASN][1000 genomes]
rs709822	1.00[ASN][1000 genomes]
rs7831946	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv890363	chr8:11647941-11681825	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv890364	chr8:11654796-11671041	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11658400-11666800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:11660400-11668200	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr8:11660800-11665800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:11660800-11666000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:11661000-11667200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:11662400-11665800	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr8:11662400-11665800	Flanking Active TSS	HUVEC	blood vessel
8	chr8:11662400-11666800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
9	chr8:11662400-11666800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:11662600-11667000	Transcr. at gene 5' and 3'	NHEK	skin
11	chr8:11663800-11665800	Bivalent/Poised TSS	HepG2	liver
12	chr8:11664000-11665800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr8:11664000-11666000	Weak transcription	Spleen	Spleen
14	chr8:11664200-11665800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:11664200-11666200	Active TSS	H1 Cell Line	embryonic stem cell
16	chr8:11664200-11666200	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr8:11664200-11669000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:11664400-11666200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr8:11664400-11666200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:11664400-11666200	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr8:11664600-11665800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr8:11664600-11666600	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr8:11664800-11665800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr8:11664800-11665800	Flanking Active TSS	HMEC	breast
25	chr8:11664800-11666800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:11664800-11667000	Weak transcription	Hela-S3	cervix
27	chr8:11665000-11665800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:11665000-11665800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:11665000-11665800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:11665000-11665800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:11665000-11665800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr8:11665000-11665800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr8:11665000-11665800	Flanking Active TSS	Liver	Liver
34	chr8:11665000-11665800	Flanking Active TSS	Fetal Brain Male	brain
35	chr8:11665000-11665800	Flanking Active TSS	Fetal Heart	heart
36	chr8:11665000-11665800	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr8:11665000-11665800	Transcr. at gene 5' and 3'	K562	blood
38	chr8:11665000-11665800	Flanking Active TSS	NH-A	brain
39	chr8:11665000-11665800	Flanking Active TSS	NHLF	lung
40	chr8:11665000-11666000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:11665000-11666200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:11665000-11666200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:11665000-11666400	Active TSS	Brain Germinal Matrix	brain
44	chr8:11665000-11667000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr8:11665000-11667200	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr8:11665200-11665800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:11665200-11665800	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr8:11665200-11665800	Flanking Active TSS	Fetal Thymus	thymus
49	chr8:11665200-11665800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr8:11665200-11665800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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