Variant report

Variant	rs1997776
Chromosome Location	chr6:34883894-34883895
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34882380..34884739-chr6:34891230..34893297,2	MCF-7	breast:
2	chr6:34875439..34878531-chr6:34883509..34886060,3	MCF-7	breast:
3	chr6:34879811..34884262-chr6:34884635..34888970,5	K562	blood:
4	chr6:34880699..34884444-chr6:34885944..34888970,5	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1737726	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1997775	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2473614	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2504163	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2504165	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847854	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847855	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847856	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296138	0.86[AMR][1000 genomes]
rs9296140	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462032	0.87[EUR][1000 genomes]
rs9469911	0.82[AFR][1000 genomes]
rs9469919	1.00[EUR][1000 genomes]
rs9469926	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1025374	chr6:34723723-34887316	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv462905	chr6:34728253-34886436	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv602906	chr6:34728253-34886436	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv1015792	chr6:34741917-34887316	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv1021733	chr6:34751052-34887316	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv1026121	chr6:34786887-34961360	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
12	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv1033135	chr6:34802652-34957093	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
14	nsv508402	chr6:34840961-34951288	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34859200-34884600	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:34859200-34884800	Weak transcription	Right Ventricle	heart
3	chr6:34859200-34890800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:34861600-34886000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:34869600-34890000	Weak transcription	Hela-S3	cervix
6	chr6:34871800-34886000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:34872400-34907200	Weak transcription	Small Intestine	intestine
8	chr6:34873200-34885400	Weak transcription	Spleen	Spleen
9	chr6:34874400-34893200	Weak transcription	Fetal Intestine Large	intestine
10	chr6:34874800-34896000	Weak transcription	Brain Anterior Caudate	brain
11	chr6:34875600-34885800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr6:34876200-34885400	Weak transcription	Gastric	stomach
13	chr6:34877000-34890000	Weak transcription	K562	blood
14	chr6:34877800-34884800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:34877800-34892200	Weak transcription	Brain Angular Gyrus	brain
16	chr6:34877800-34921000	Weak transcription	Pancreas	Pancrea
17	chr6:34878000-34885600	Weak transcription	Fetal Heart	heart
18	chr6:34878000-34891400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr6:34878000-34896400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr6:34878400-34884800	Weak transcription	Lung	lung
21	chr6:34879600-34884600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:34879600-34885000	Weak transcription	Liver	Liver
23	chr6:34879600-34886000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:34879600-34892200	Weak transcription	Fetal Intestine Small	intestine
25	chr6:34879600-34892200	Weak transcription	Fetal Kidney	kidney
26	chr6:34879600-34893200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr6:34879600-34896800	Weak transcription	Brain Hippocampus Middle	brain
28	chr6:34879800-34891800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:34879800-34893000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:34880000-34888800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:34880400-34884200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr6:34880400-34884600	Weak transcription	Aorta	Aorta
33	chr6:34880800-34893400	Weak transcription	Fetal Thymus	thymus
34	chr6:34881000-34889200	Weak transcription	Primary B cells from cord blood	blood
35	chr6:34881000-34898000	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr6:34881200-34884000	Weak transcription	NHDF-Ad	bronchial
37	chr6:34881200-34885400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:34881200-34887200	Weak transcription	NHEK	skin
39	chr6:34881200-34890200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr6:34881200-34893000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr6:34881200-34928200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr6:34881400-34885200	Weak transcription	Primary T cells from cord blood	blood
43	chr6:34881400-34885400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:34881400-34885800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:34881400-34887600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:34881400-34890000	Weak transcription	HMEC	breast
47	chr6:34881400-34896600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr6:34881400-34902800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr6:34881600-34885000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:34881600-34885400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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