Variant report

Variant	rs13254998
Chromosome Location	chr8:1849749-1849750
allele	C/G
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	EP300	chr8:1849352-1850236	ECC-1	luminal epithelium:	n/a	chr8:1849965-1849974
2	MYC	chr8:1849748-1849914	MCF-7	breast:	n/a	n/a
3	MAX	chr8:1849579-1850127	ECC-1	luminal epithelium:	n/a	n/a
4	TEAD4	chr8:1849453-1850113	ECC-1	luminal epithelium:	n/a	n/a
5	ZNF263	chr8:1849296-1849921	HEK293-T-REx	kidney:	n/a	chr8:1849452-1849473
6	TCF12	chr8:1849324-1850177	ECC-1	luminal epithelium:	n/a	n/a
7	NFIC	chr8:1849399-1850141	ECC-1	luminal epithelium:	n/a	n/a
8	TCF12	chr8:1849482-1850079	ECC-1	luminal epithelium:	n/a	n/a
9	EP300	chr8:1849512-1850141	ECC-1	luminal epithelium:	n/a	chr8:1849965-1849974
10	TEAD4	chr8:1849571-1850138	ECC-1	luminal epithelium:	n/a	n/a
11	NFIC	chr8:1849334-1850237	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:1848233..1850462-chr8:1857880..1860759,2	MCF-7	breast:
2	chr8:1849167..1851254-chr8:1973705..1975822,2	MCF-7	breast:
3	chr8:1848105..1850497-chr8:1856585..1858723,2	K562	blood:

Variant related genes	Relation type
ARHGEF10	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13258210	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13258241	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13258960	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs17064355	0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889697	chr8:1238564-1861971	Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv889704	chr8:1563904-1965389	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv889707	chr8:1581839-1920461	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv889708	chr8:1581839-1965389	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv889709	chr8:1581839-1965389	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv889711	chr8:1591412-1904157	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv889714	chr8:1616718-1965389	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv609531	chr8:1717036-1965389	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv1025444	chr8:1743663-1864809	Genic enhancers Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
11	nsv539299	chr8:1743663-1864809	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv470167	chr8:1746949-1886640	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	nsv465277	chr8:1746950-1888447	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv609533	chr8:1746950-1888447	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv889717	chr8:1746950-1924237	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
16	nsv1017597	chr8:1748941-1865887	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
17	nsv889722	chr8:1756800-1857293	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
18	nsv889723	chr8:1756800-1904157	Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
19	nsv889724	chr8:1756800-1965389	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
20	nsv889728	chr8:1768004-1850622	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
21	nsv889729	chr8:1800560-1947417	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
22	nsv831207	chr8:1803355-1888324	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
23	nsv6046	chr8:1816569-1861304	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
24	nsv889730	chr8:1821516-1883352	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
25	nsv1017511	chr8:1840497-1865887	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1819000-1853200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:1822800-1858200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:1824400-1864800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:1828600-1858800	Weak transcription	Colonic Mucosa	Colon
5	chr8:1836200-1857400	Weak transcription	Esophagus	oesophagus
6	chr8:1836400-1852800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:1840800-1865400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:1841000-1855000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:1841000-1864400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:1841000-1877600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:1842000-1855600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:1842400-1856400	Strong transcription	Left Ventricle	heart
13	chr8:1842400-1858800	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr8:1843000-1859800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:1843400-1849800	Strong transcription	Adipose Nuclei	Adipose
16	chr8:1843400-1851600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:1843400-1853400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:1843400-1866400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:1843600-1852400	Strong transcription	NHEK	skin
20	chr8:1844800-1849800	Strong transcription	Ovary	ovary
21	chr8:1844800-1850000	Genic enhancers	Fetal Muscle Trunk	muscle
22	chr8:1844800-1850200	Strong transcription	Aorta	Aorta
23	chr8:1844800-1865400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:1845000-1849800	Strong transcription	Gastric	stomach
25	chr8:1845000-1849800	Strong transcription	Pancreas	Pancrea
26	chr8:1845000-1852200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:1845200-1855400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:1845400-1850400	Weak transcription	Fetal Heart	heart
29	chr8:1845400-1851600	Weak transcription	Fetal Kidney	kidney
30	chr8:1845400-1857200	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:1845400-1860800	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr8:1845400-1879600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:1845400-1908000	Weak transcription	Right Atrium	heart
34	chr8:1845600-1850800	Weak transcription	Fetal Intestine Small	intestine
35	chr8:1845600-1856200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr8:1845600-1860200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
37	chr8:1845600-1860200	Weak transcription	Fetal Intestine Large	intestine
38	chr8:1845600-1866400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:1845600-1867000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr8:1845600-1867200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr8:1846000-1850800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:1846000-1853000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:1846000-1864800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr8:1846200-1850800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:1846200-1866400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:1846800-1850800	Weak transcription	Spleen	Spleen
47	chr8:1846800-1855000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:1846800-1864400	Strong transcription	Stomach Smooth Muscle	stomach
49	chr8:1847000-1857400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:1847200-1850400	Enhancers	Cortex derived primary cultured neurospheres	brain

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