Variant report

Variant	rs3812196
Chromosome Location	chr6:16683202-16683203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:16681433..16684146-chr6:16760943..16763163,2	MCF-7	breast:
2	chr6:16682591..16685553-chr6:16759486..16763213,7	MCF-7	breast:
3	chr6:16676782..16679768-chr6:16682093..16684371,2	K562	blood:
4	chr6:16683098..16685011-chr6:16765280..16767856,2	MCF-7	breast:
5	chr6:16681859..16683868-chr6:16689628..16691605,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229931	Chromatin interaction
ENSG00000124788	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17669356	0.85[CEU][hapmap]
rs3812194	0.95[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.93[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9370920	0.82[JPT][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	nsv532022	chr6:16448152-16825567	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1031423	chr6:16467215-16823725	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1015992	chr6:16469059-16846847	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv538148	chr6:16469059-16846847	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:16662200-16684000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:16662200-16684000	Weak transcription	Placenta	Placenta
3	chr6:16662200-16685200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:16662200-16699600	Weak transcription	Fetal Intestine Large	intestine
5	chr6:16662400-16699600	Weak transcription	Fetal Intestine Small	intestine
6	chr6:16669600-16685200	Weak transcription	Fetal Kidney	kidney
7	chr6:16670400-16683600	Weak transcription	Small Intestine	intestine
8	chr6:16670800-16685200	Weak transcription	Primary T cells from cord blood	blood
9	chr6:16671000-16684000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:16671200-16683800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr6:16671400-16694800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr6:16671800-16687600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr6:16672600-16684200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr6:16672600-16685600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:16672800-16683800	Weak transcription	Psoas Muscle	Psoas
16	chr6:16673000-16684000	Weak transcription	Right Ventricle	heart
17	chr6:16673200-16700400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:16674200-16684000	Weak transcription	Pancreas	Pancrea
19	chr6:16675400-16683400	Weak transcription	Left Ventricle	heart
20	chr6:16675400-16684000	Weak transcription	Aorta	Aorta
21	chr6:16675400-16684000	Weak transcription	Spleen	Spleen
22	chr6:16675600-16684000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr6:16675800-16684200	Weak transcription	Fetal Stomach	stomach
24	chr6:16675800-16684400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:16677400-16684000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr6:16677600-16683600	Weak transcription	Brain Substantia Nigra	brain
27	chr6:16677600-16683800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:16677800-16683400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr6:16677800-16683600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:16677800-16684000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:16678000-16683400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr6:16678000-16683800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:16678000-16683800	Weak transcription	Brain Angular Gyrus	brain
34	chr6:16678000-16684200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:16678000-16685200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr6:16678000-16687000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:16678000-16687600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:16678000-16700400	Weak transcription	Ovary	ovary
39	chr6:16678200-16683600	Weak transcription	Brain Anterior Caudate	brain
40	chr6:16678400-16683400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr6:16678400-16683600	Weak transcription	Liver	Liver
42	chr6:16678600-16683400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr6:16678600-16684000	Weak transcription	Fetal Lung	lung
44	chr6:16680400-16686000	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr6:16680800-16683800	Enhancers	HepG2	liver
46	chr6:16680800-16686000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:16680800-16686000	Enhancers	HMEC	breast
48	chr6:16681200-16683600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:16681200-16685800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:16681600-16683400	Weak transcription	Esophagus	oesophagus

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