Variant report

Variant	rs11992813
Chromosome Location	chr8:1828450-1828451
allele	C/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	CTCF	chr8:1828360-1828510	NHDF-neo	bronchial:	n/a	n/a
2	CTCF	chr8:1828420-1828570	HBMEC	blood vessel:	n/a	n/a
3	CTCF	chr8:1828440-1828590	AG09319	gingival:	n/a	n/a
4	CTCF	chr8:1828420-1828570	NHLF	lung:	n/a	n/a
5	CTCF	chr8:1828420-1828570	AoAF	blood vessel:	n/a	n/a
6	CTCF	chr8:1828400-1828550	HPAF	blood vessel:	n/a	n/a

Variant related genes	Relation type
ARHGEF10	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11783176	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4875945	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60187111	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6995567	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7388085	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7841942	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7842515	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 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	nsv532892	chr8:1687433-1839578	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats 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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	nsv1031464	chr8:1763119-1848596	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh 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
22	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
23	nsv1019398	chr8:1788934-1829244	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
24	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
25	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
26	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
27	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

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1774000-1845000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:1802200-1845000	Weak transcription	Right Atrium	heart
3	chr8:1806000-1828800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:1806000-1844000	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:1806400-1839800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:1808600-1848400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:1812000-1840400	Weak transcription	Fetal Brain Male	brain
8	chr8:1813000-1840800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:1814000-1835200	Weak transcription	Fetal Intestine Large	intestine
10	chr8:1814400-1834800	Weak transcription	Esophagus	oesophagus
11	chr8:1814600-1834000	Weak transcription	Spleen	Spleen
12	chr8:1814800-1834000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:1815200-1829000	Weak transcription	Right Ventricle	heart
14	chr8:1815200-1835000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:1816200-1845000	Weak transcription	Hela-S3	cervix
16	chr8:1816400-1831000	Weak transcription	Fetal Heart	heart
17	chr8:1816800-1834000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr8:1816800-1834800	Weak transcription	Colon Smooth Muscle	Colon
19	chr8:1817000-1834600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:1817000-1836600	Weak transcription	Fetal Kidney	kidney
21	chr8:1817000-1838000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:1818200-1829000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:1818400-1829800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:1818400-1831200	Weak transcription	Pancreas	Pancrea
25	chr8:1818400-1831400	Weak transcription	HSMMtube	muscle
26	chr8:1818600-1834600	Weak transcription	Fetal Intestine Small	intestine
27	chr8:1818800-1833200	Weak transcription	NH-A	brain
28	chr8:1818800-1833800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr8:1819000-1830600	Weak transcription	NHDF-Ad	bronchial
30	chr8:1819000-1834000	Weak transcription	HMEC	breast
31	chr8:1819000-1853200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr8:1820200-1842800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr8:1820600-1840000	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr8:1820800-1830400	Weak transcription	Fetal Brain Female	brain
35	chr8:1821200-1829600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:1821200-1833200	Weak transcription	HSMM	muscle
37	chr8:1821400-1828800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:1821400-1828800	Weak transcription	Fetal Lung	lung
39	chr8:1821600-1829200	Weak transcription	Gastric	stomach
40	chr8:1821800-1834600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr8:1822000-1829000	Weak transcription	Placenta	Placenta
42	chr8:1822000-1844000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:1822200-1829000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:1822200-1844400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr8:1822400-1834200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:1822600-1834000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:1822600-1839800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:1822800-1858200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:1823400-1835000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:1823600-1836400	Strong transcription	H1 Cell Line	embryonic stem cell

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