Variant report

Variant	rs7612622
Chromosome Location	chr3:137979007-137979008
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	POLR2A	chr3:137977280-137981854	K562	blood:	n/a	n/a
2	POLR2A	chr3:137977831-137979402	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:137975813..137979217-chr3:137979670..137982699,3	MCF-7	breast:
2	chr3:137978167..137980687-chr3:137984044..137985831,2	K562	blood:

Variant related genes	Relation type
ARMC8	TF binding region
ENSG00000114098	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13065895	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs17204145	0.82[CHD][hapmap]
rs329387	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs3773766	0.93[ASN][1000 genomes]
rs4678405	0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6778511	0.94[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.90[LWK][hapmap];0.91[MEX][hapmap];0.87[MKK][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7631734	0.82[CEU][hapmap];0.89[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs774800	0.82[CEU][hapmap];0.89[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs774801	0.82[CEU][hapmap];0.89[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs939453	0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9842193	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9846722	0.81[CHD][hapmap]
rs9853581	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9862439	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][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	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137942800-137993400	Weak transcription	Fetal Brain Male	brain
2	chr3:137943600-137992000	Weak transcription	Gastric	stomach
3	chr3:137944200-137992000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:137944800-137984400	Weak transcription	Spleen	Spleen
5	chr3:137944800-138017400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:137946200-137991800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:137950800-137992000	Weak transcription	NHLF	lung
8	chr3:137951200-137992000	Weak transcription	Pancreas	Pancrea
9	chr3:137952200-137984400	Weak transcription	Aorta	Aorta
10	chr3:137952200-137992000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:137952400-137984400	Weak transcription	Brain Angular Gyrus	brain
12	chr3:137953600-137992000	Weak transcription	Colonic Mucosa	Colon
13	chr3:137954600-138014400	Weak transcription	NHDF-Ad	bronchial
14	chr3:137955600-137984600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:137956400-138019400	Weak transcription	Small Intestine	intestine
16	chr3:137956600-137990200	Weak transcription	A549	lung
17	chr3:137957000-137982600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr3:137957600-137991800	Weak transcription	Brain Substantia Nigra	brain
19	chr3:137958000-137993200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:137959400-137983600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr3:137961400-137982200	Weak transcription	Colon Smooth Muscle	Colon
22	chr3:137961400-137982800	Weak transcription	NH-A	brain
23	chr3:137961400-137984200	Weak transcription	Brain Hippocampus Middle	brain
24	chr3:137962000-137990200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr3:137962000-137992000	Weak transcription	Fetal Kidney	kidney
26	chr3:137962200-137982400	Weak transcription	Ovary	ovary
27	chr3:137964200-137982200	Weak transcription	Fetal Intestine Small	intestine
28	chr3:137964200-137983600	Weak transcription	Fetal Brain Female	brain
29	chr3:137964200-137983800	Weak transcription	Right Ventricle	heart
30	chr3:137964200-137984400	Weak transcription	Thymus	Thymus
31	chr3:137964200-137992000	Weak transcription	Hela-S3	cervix
32	chr3:137964400-137983600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr3:137964800-137979200	Weak transcription	HSMMtube	muscle
34	chr3:137964800-137992000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr3:137964800-137992000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:137964800-137992000	Weak transcription	Esophagus	oesophagus
37	chr3:137964800-138003800	Weak transcription	K562	blood
38	chr3:137965000-137982400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr3:137965000-137983000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:137965000-137984400	Weak transcription	Brain Anterior Caudate	brain
41	chr3:137965000-137990200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr3:137965200-137983600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:137965200-137985000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr3:137965400-137982600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr3:137965400-137992000	Weak transcription	Brain Germinal Matrix	brain
46	chr3:137965400-137992200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr3:137966800-137983800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr3:137967000-137991800	Weak transcription	HepG2	liver
49	chr3:137967200-137980000	Weak transcription	Dnd41	blood
50	chr3:137967200-137988400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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