Variant report

Variant	rs7829301
Chromosome Location	chr8:65711945-65711946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:65709527-65712381	GM19099	blood:	n/a	n/a
2	POLR2A	chr8:65710718-65711970	GM18505	blood:	n/a	n/a
3	MAX	chr8:65710532-65712061	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:65710509-65711967	GM18951	blood:	n/a	n/a
5	E2F6	chr8:65711478-65711977	H1-hESC	embryonic stem cell:	n/a	chr8:65711715-65711727 chr8:65711715-65711724 chr8:65711715-65711726 chr8:65711716-65711723 chr8:65711716-65711723 chr8:65711716-65711727 chr8:65711716-65711723
6	POLR2A	chr8:65709411-65712480	GM12878	blood:	n/a	n/a
7	MAX	chr8:65711560-65712012	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr8:65710693-65712323	GM12878	blood:	n/a	n/a
9	POLR2A	chr8:65710613-65711978	GM18526	blood:	n/a	n/a
10	POLR2A	chr8:65710656-65712085	GM12892	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:65711916-65711966	Caco-2	colon:	n/a
2	chr8:65711916-65711966	GM12892	blood:	n/a
3	chr8:65711916-65711966	AG09319	gingival:	n/a
4	chr8:65711916-65711966	AG09309	skin:	n/a
5	chr8:65711916-65711966	HL-60	blood:	n/a
6	chr8:65711916-65711966	NHBE	bronchial:	n/a
7	chr8:65711916-65711966	PrEC	prostate:	n/a
8	chr8:65711916-65711966	HCT-116	colon:	n/a
9	chr8:65711916-65711966	SKMC	muscle:	n/a
10	chr8:65711916-65711966	SK-N-MC	brain:	n/a
11	chr8:65711916-65711966	K562	blood:	n/a
12	chr8:65711916-65711966	HPAEpiC	pulmonary alveolar:	n/a
13	chr8:65711916-65711966	HIPEpiC	eye:	n/a
14	chr8:65711916-65711966	U87	brain:	n/a
15	chr8:65711916-65711966	H1-hESC	embryonic stem cell:	embryo
16	chr8:65711916-65711966	HNPCEpiC	eye:	n/a
17	chr8:65711916-65711966	ECC-1	luminal epithelium:	n/a
18	chr8:65711916-65711966	AoSMC	blood vessel:	n/a
19	chr8:65711916-65711966	NH-A	brain:	n/a
20	chr8:65711916-65711966	AG04450	lung:	fetal
21	chr8:65711916-65711966	A549	lung:	n/a
22	chr8:65711916-65711966	HEK293	kidney:	embryo
23	chr8:65711916-65711966	MCF-7	breast:	n/a
24	chr8:65711916-65711966	HUVEC	blood vessel:	n/a
25	chr8:65711916-65711966	HMEC	breast:	n/a
26	chr8:65711916-65711966	BE2_C	brain:	n/a
27	chr8:65711916-65711966	SK-N-SH_RA	brain:	n/a
28	chr8:65711916-65711966	HCM	heart:	n/a
29	chr8:65711916-65711966	ovcar-3	ovarian:	n/a
30	chr8:65711916-65711966	BJ	skin:	n/a
31	chr8:65711916-65711966	RPTEC	kidney:	n/a
32	chr8:65711916-65711966	Jurkat	blood:	n/a
33	chr8:65711916-65711966	CMK	blood:	n/a
34	chr8:65711916-65711966	HRCEpiC	kidney:	n/a
35	chr8:65711916-65711966	HEEpiC	esophagus:	n/a
36	chr8:65711916-65711966	HRE	kidney:	n/a
37	chr8:65711916-65711966	HCF	heart:	n/a
38	chr8:65711916-65711966	AG04449	skin:	fetal
39	chr8:65711916-65711966	GM12891	blood:	n/a
40	chr8:65711916-65711966	PANC-1	pancreas:	n/a
41	chr8:65711916-65711966	GM19239	blood:	n/a
42	chr8:65711916-65711966	HRPEpiC	eye:	n/a
43	chr8:65711916-65711966	SAEC	small airway:	n/a
44	chr8:65711916-65711966	ProgFib	skin:	n/a
45	chr8:65711916-65711966	IMR90	lung:	fetal
46	chr8:65711916-65711966	AG10803	skin:	n/a
47	chr8:65711916-65711966	PFSK-1	brain:	n/a
48	chr8:65711916-65711966	Hepatocyte	liver:	n/a
49	chr8:65711916-65711966	MCF10A-Er-Src	breast:	n/a
50	chr8:65711916-65711966	HAEpiC	amniotic membrane:	n/a

No data

Variant related genes	Relation type
CYP7B1	TF binding region
CYP7B1	CpG island

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10098783	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10112945	0.89[ASN][1000 genomes]
rs10283033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957319	0.91[CHB][hapmap]
rs11781142	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13271194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16931350	0.91[CHB][hapmap];0.80[JPT][hapmap];1.00[MEX][hapmap]
rs16931360	0.91[CHB][hapmap];0.80[JPT][hapmap]
rs2356985	0.87[ASN][1000 genomes]
rs2356986	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2884074	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3824188	0.91[CHB][hapmap];0.80[JPT][hapmap];1.00[MEX][hapmap]
rs4236936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4258041	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4269577	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4392942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4397440	0.91[CHB][hapmap];1.00[MEX][hapmap]
rs4472561	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4527914	0.91[CHB][hapmap];0.80[JPT][hapmap];1.00[MEX][hapmap]
rs4549812	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4737682	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs6472151	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6472152	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6472154	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6987861	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7013387	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7814191	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7821085	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7842113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65707600-65712000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:65709800-65712000	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr8:65710000-65712000	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr8:65710000-65712000	Active TSS	Fetal Kidney	kidney
5	chr8:65710200-65712000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr8:65710200-65712200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr8:65710400-65712000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr8:65710400-65712000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr8:65710400-65712000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr8:65710600-65712000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr8:65710600-65712000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr8:65710600-65712000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr8:65710600-65712000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:65710600-65712000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr8:65710600-65712000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:65710600-65712000	Active TSS	Esophagus	oesophagus
17	chr8:65710600-65712000	Active TSS	Pancreas	Pancrea
18	chr8:65710800-65712000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr8:65710800-65712000	Active TSS	Brain Anterior Caudate	brain
20	chr8:65710800-65712000	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr8:65710800-65712000	Active TSS	Rectal Smooth Muscle	rectum
22	chr8:65711000-65712000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:65711200-65712000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:65711400-65712000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:65711400-65712000	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr8:65711400-65712000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr8:65711400-65712000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
28	chr8:65711400-65712000	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr8:65711400-65712400	Flanking Active TSS	Liver	Liver
30	chr8:65711600-65712000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:65711600-65712000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:65711600-65712000	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr8:65711600-65714600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:65711800-65712000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr8:65711800-65712000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
36	chr8:65711800-65712000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
37	chr8:65711800-65712000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:65711800-65712000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:65711800-65712000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr8:65711800-65712000	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr8:65711800-65712000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:65711800-65712000	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr8:65711800-65712000	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr8:65711800-65712000	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr8:65711800-65712000	Active TSS	Fetal Brain Male	brain
46	chr8:65711800-65712000	Enhancers	Fetal Heart	heart
47	chr8:65711800-65712000	Bivalent Enhancer	Fetal Intestine Small	intestine
48	chr8:65711800-65712000	Flanking Active TSS	Fetal Lung	lung
49	chr8:65711800-65712000	Active TSS	Fetal Muscle Trunk	muscle
50	chr8:65711800-65712000	Enhancers	Fetal Stomach	stomach

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