Variant report

Variant	rs7386024
Chromosome Location	chr8:1890648-1890649
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:1890638-1890668	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr8:1890448-1890677	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr8:1890437-1890677	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:1890640-1890690	NB4	blood:	n/a
2	chr8:1890640-1890690	HCF	heart:	n/a
3	chr8:1890640-1890690	NH-A	brain:	n/a
4	chr8:1890640-1890690	ovcar-3	ovarian:	n/a
5	chr8:1890640-1890690	HRPEpiC	eye:	n/a
6	chr8:1890640-1890690	NHBE	bronchial:	n/a
7	chr8:1890640-1890690	AG04449	skin:	fetal
8	chr8:1890640-1890690	NHDF-neo	bronchial:	n/a
9	chr8:1890640-1890690	GM12878	blood:	n/a
10	chr8:1890640-1890690	HIPEpiC	eye:	n/a
11	chr8:1890640-1890690	RPTEC	kidney:	n/a
12	chr8:1890640-1890690	BJ	skin:	n/a
13	chr8:1890640-1890690	GM12891	blood:	n/a
14	chr8:1890640-1890690	AG10803	skin:	n/a
15	chr8:1890640-1890690	ECC-1	luminal epithelium:	n/a
16	chr8:1890640-1890690	HepG2	liver:	n/a
17	chr8:1890640-1890690	Hepatocyte	liver:	n/a
18	chr8:1890640-1890690	SK-N-MC	brain:	n/a
19	chr8:1890640-1890690	ProgFib	skin:	n/a
20	chr8:1890640-1890690	GM12892	blood:	n/a
21	chr8:1890640-1890690	CMK	blood:	n/a
22	chr8:1890640-1890690	A549	lung:	n/a
23	chr8:1890640-1890690	HCT-116	colon:	n/a
24	chr8:1890640-1890690	K562	blood:	n/a
25	chr8:1890640-1890690	SKMC	muscle:	n/a
26	chr8:1890640-1890690	HEK293	kidney:	embryo
27	chr8:1890640-1890690	MCF-7	breast:	n/a
28	chr8:1890640-1890690	PANC-1	pancreas:	n/a
29	chr8:1890640-1890690	SK-N-SH_RA	brain:	n/a
30	chr8:1890640-1890690	HAEpiC	amniotic membrane:	n/a
31	chr8:1890640-1890690	H1-hESC	embryonic stem cell:	embryo
32	chr8:1890640-1890690	SAEC	small airway:	n/a
33	chr8:1890640-1890690	AG09309	skin:	n/a
34	chr8:1890640-1890690	HRCEpiC	kidney:	n/a
35	chr8:1890640-1890690	PrEC	prostate:	n/a
36	chr8:1890640-1890690	PFSK-1	brain:	n/a
37	chr8:1890640-1890690	MCF10A-Er-Src	breast:	n/a
38	chr8:1890640-1890690	T-47D	breast:	n/a
39	chr8:1890640-1890690	Hela-S3	cervix:	n/a
40	chr8:1890640-1890690	IMR90	lung:	fetal
41	chr8:1890640-1890690	HCM	heart:	n/a
42	chr8:1890640-1890690	AG09319	gingival:	n/a
43	chr8:1890640-1890690	Caco-2	colon:	n/a
44	chr8:1890640-1890690	HEEpiC	esophagus:	n/a
45	chr8:1890640-1890690	SK-N-SH	brain:	n/a
46	chr8:1890640-1890690	GM19239	blood:	n/a
47	chr8:1890640-1890690	HNPCEpiC	eye:	n/a
48	chr8:1890640-1890690	AG04450	lung:	fetal
49	chr8:1890640-1890690	AoSMC	blood vessel:	n/a
50	chr8:1890640-1890690	U87	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1888469..1891151-chr8:1893688..1896485,2	K562	blood:

No data

Variant related genes	Relation type
ARHGEF10	TF binding region
ARHGEF10	CpG island

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3779707	0.81[ASN][1000 genomes]
rs3824141	0.95[ASN][1000 genomes]
rs57729473	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv889731	chr8:1868842-1965389	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv889732	chr8:1870956-1906630	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv889733	chr8:1870992-1904157	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv889734	chr8:1870992-1906630	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1845400-1908000	Weak transcription	Right Atrium	heart
2	chr8:1868000-1902400	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:1869000-1891800	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr8:1871600-1907400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:1873800-1894800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:1880800-1906200	Weak transcription	Colonic Mucosa	Colon
7	chr8:1883000-1896200	Weak transcription	NH-A	brain
8	chr8:1884200-1894200	Weak transcription	NHDF-Ad	bronchial
9	chr8:1884200-1897000	Weak transcription	Placenta	Placenta
10	chr8:1884400-1892600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:1884400-1895000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr8:1884400-1904800	Weak transcription	Brain Germinal Matrix	brain
13	chr8:1884600-1891000	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:1884600-1898400	Weak transcription	Hela-S3	cervix
15	chr8:1884600-1906200	Weak transcription	A549	lung
16	chr8:1884800-1892800	Weak transcription	Brain Angular Gyrus	brain
17	chr8:1885400-1892200	Weak transcription	Pancreas	Pancrea
18	chr8:1885400-1893000	Weak transcription	Fetal Intestine Small	intestine
19	chr8:1885400-1900000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr8:1885800-1893400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:1885800-1894200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:1886000-1892800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:1886000-1896400	Weak transcription	HSMMtube	muscle
24	chr8:1886000-1906200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:1886400-1893600	Weak transcription	Spleen	Spleen
26	chr8:1887000-1891400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:1887000-1893800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:1887800-1892200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:1887800-1898000	Weak transcription	Left Ventricle	heart
30	chr8:1887800-1900400	Weak transcription	Gastric	stomach
31	chr8:1888000-1892400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:1888000-1892600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:1888000-1893000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:1888000-1893200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr8:1888000-1893200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:1888000-1893200	Weak transcription	NHLF	lung
37	chr8:1888000-1893400	Weak transcription	Ovary	ovary
38	chr8:1888000-1893800	Weak transcription	Lung	lung
39	chr8:1888000-1895400	Weak transcription	Esophagus	oesophagus
40	chr8:1888000-1896000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr8:1888000-1904800	Weak transcription	HMEC	breast
42	chr8:1888200-1892200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr8:1888200-1893200	Weak transcription	Right Ventricle	heart
44	chr8:1888200-1894400	Weak transcription	Adipose Nuclei	Adipose
45	chr8:1888200-1894600	Weak transcription	Aorta	Aorta
46	chr8:1888400-1893000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:1888400-1896600	Weak transcription	NHEK	skin
48	chr8:1888600-1891200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr8:1888600-1892400	Weak transcription	Fetal Brain Female	brain
50	chr8:1889000-1891000	Weak transcription	Fetal Brain Male	brain

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