Variant report

Variant	rs3812217
Chromosome Location	chr6:16718093-16718094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:16716927..16719862-chr6:16759393..16762204,3	MCF-7	breast:
2	chr6:16717139..16719939-chr6:16720526..16723481,3	MCF-7	breast:
3	chr6:16716594..16718951-chr6:16743535..16746274,2	MCF-7	breast:
4	chr6:16712959..16715312-chr6:16715502..16718800,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124788	Chromatin interaction
ENSG00000229931	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10434861	0.85[CHD][hapmap];0.93[JPT][hapmap]
rs16879213	1.00[TSI][hapmap]
rs2073515	1.00[AFR][1000 genomes]
rs6459484	0.85[CHD][hapmap];0.93[JPT][hapmap]
rs6915772	0.81[JPT][hapmap]
rs9350015	0.81[CHD][hapmap];0.93[JPT][hapmap]
rs9358103	1.00[CEU][hapmap];0.89[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:16705400-16719800	Weak transcription	Aorta	Aorta
2	chr6:16705400-16722200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr6:16706200-16730600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:16706400-16722200	Weak transcription	Lung	lung
5	chr6:16706400-16742600	Weak transcription	Pancreas	Pancrea
6	chr6:16708000-16724200	Weak transcription	Spleen	Spleen
7	chr6:16712800-16719800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:16713000-16724000	Weak transcription	Primary T cells from cord blood	blood
9	chr6:16713200-16718600	Weak transcription	Liver	Liver
10	chr6:16713200-16722200	Weak transcription	Fetal Kidney	kidney
11	chr6:16713200-16731400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:16713600-16718400	Weak transcription	Fetal Lung	lung
13	chr6:16713600-16719200	Weak transcription	Fetal Intestine Large	intestine
14	chr6:16713600-16719800	Weak transcription	Right Atrium	heart
15	chr6:16713600-16724000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:16713800-16719000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:16713800-16731200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:16713800-16747800	Weak transcription	Brain Germinal Matrix	brain
19	chr6:16714000-16718200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr6:16714000-16718600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:16714000-16718600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:16714000-16718600	Weak transcription	Fetal Intestine Small	intestine
23	chr6:16714000-16718600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr6:16714000-16718600	Weak transcription	NHLF	lung
25	chr6:16714000-16722200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr6:16714000-16722200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr6:16714000-16722200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr6:16714000-16723200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:16714000-16723800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr6:16714200-16718200	Weak transcription	NH-A	brain
31	chr6:16714200-16718400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr6:16714200-16718400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr6:16714200-16718400	Weak transcription	Osteobl	bone
34	chr6:16714200-16718600	Weak transcription	Adipose Nuclei	Adipose
35	chr6:16714200-16718600	Weak transcription	NHDF-Ad	bronchial
36	chr6:16714200-16719000	Weak transcription	A549	lung
37	chr6:16714200-16723000	Weak transcription	GM12878-XiMat	blood
38	chr6:16714200-16724000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr6:16714200-16724200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:16714200-16724400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr6:16714400-16718200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:16714400-16718600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:16714400-16719600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:16714400-16722200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:16714400-16724600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:16714600-16718400	Weak transcription	HMEC	breast
47	chr6:16714600-16718400	Weak transcription	HSMMtube	muscle
48	chr6:16714600-16718600	Weak transcription	Small Intestine	intestine
49	chr6:16714600-16719800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:16714600-16722200	Weak transcription	Hela-S3	cervix

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