Variant report

Variant	rs7003102
Chromosome Location	chr8:126303493-126303494
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126298317..126304061-chr8:126440512..126444095,5	MCF-7	breast:
2	chr8:126302028..126304645-chr8:126442784..126445222,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12542512	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900516	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651233	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7007866	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816350	0.82[CEU][hapmap];0.92[GIH][hapmap];0.86[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv3419040	chr8:126271495-126339914	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv891436	chr8:126283766-126345076	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126264800-126310600	Weak transcription	Aorta	Aorta
2	chr8:126291000-126321600	Weak transcription	Primary B cells from cord blood	blood
3	chr8:126291200-126321000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr8:126298200-126306000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:126298400-126303600	Weak transcription	Liver	Liver
6	chr8:126298400-126306600	Weak transcription	Psoas Muscle	Psoas
7	chr8:126298400-126312800	Weak transcription	Gastric	stomach
8	chr8:126299600-126304200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:126300600-126304400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:126300600-126304400	Enhancers	HepG2	liver
11	chr8:126301200-126304400	Enhancers	Duodenum Mucosa	Duodenum
12	chr8:126301400-126307000	Enhancers	GM12878-XiMat	blood
13	chr8:126301800-126304200	Weak transcription	Pancreas	Pancrea
14	chr8:126301800-126304200	Weak transcription	Spleen	Spleen
15	chr8:126301800-126307600	Weak transcription	Left Ventricle	heart
16	chr8:126301800-126309400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:126301800-126312400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:126301800-126312600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:126301800-126314600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:126301800-126319600	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:126302000-126303800	Weak transcription	Stomach Mucosa	stomach
22	chr8:126302000-126303800	Weak transcription	NHEK	skin
23	chr8:126302000-126309400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:126302000-126310600	Weak transcription	NH-A	brain
25	chr8:126302200-126318800	Weak transcription	Primary T cells from cord blood	blood
26	chr8:126302200-126318800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr8:126302400-126304000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:126302600-126331000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:126302800-126304200	Flanking Active TSS	A549	lung
30	chr8:126303000-126304000	Weak transcription	Brain Substantia Nigra	brain
31	chr8:126303000-126304000	Weak transcription	Hela-S3	cervix
32	chr8:126303000-126304200	Weak transcription	Fetal Heart	heart
33	chr8:126303000-126304200	Weak transcription	Thymus	Thymus
34	chr8:126303000-126304600	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr8:126303000-126305400	Weak transcription	Brain Anterior Caudate	brain
36	chr8:126303000-126308400	Weak transcription	HUVEC	blood vessel
37	chr8:126303000-126310600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:126303000-126312800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:126303000-126314600	Weak transcription	Right Atrium	heart
40	chr8:126303200-126303600	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr8:126303200-126304200	Weak transcription	Fetal Intestine Large	intestine
42	chr8:126303200-126304200	Weak transcription	Fetal Thymus	thymus
43	chr8:126303200-126304600	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr8:126303200-126305400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:126303200-126306000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr8:126303200-126307000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:126303200-126314400	Weak transcription	Fetal Intestine Small	intestine
48	chr8:126303400-126303800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr8:126303400-126304200	Weak transcription	K562	blood
50	chr8:126303400-126306200	Weak transcription	Small Intestine	intestine

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