Variant report

Variant	rs1538996
Chromosome Location	chr6:119028576-119028577
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119020899..119024198-chr6:119027287..119029585,3	MCF-7	breast:
2	chr6:119027726..119029678-chr6:119052215..119053776,2	K562	blood:
3	chr6:119025081..119026772-chr6:119027476..119030330,2	MCF-7	breast:
4	chr6:119027193..119028788-chr6:119215908..119217917,2	K562	blood:
5	chr6:119026092..119028989-chr6:119074948..119078427,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1688631	0.86[ASN][1000 genomes]
rs1771752	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1771755	0.86[ASN][1000 genomes]
rs1771756	0.85[ASN][1000 genomes]
rs2452262	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2638530	0.86[ASN][1000 genomes]
rs2638532	0.86[ASN][1000 genomes]
rs2638533	0.86[ASN][1000 genomes]
rs2798325	0.86[ASN][1000 genomes]
rs2798329	0.86[ASN][1000 genomes]
rs4946357	0.82[ASN][1000 genomes]
rs7764388	0.86[ASN][1000 genomes]
rs794857	0.87[ASN][1000 genomes]
rs794859	0.86[ASN][1000 genomes]
rs794861	0.88[ASN][1000 genomes]
rs9489504	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1025456	chr6:118669672-119058789	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv1025097	chr6:118699752-119058789	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv532052	chr6:118711850-119057295	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats 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 miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv604556	chr6:118722589-119065365	Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv949416	chr6:118772508-119033063	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
13	nsv604559	chr6:118786486-119113317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv1022865	chr6:118786586-119058789	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	nsv830788	chr6:119014021-119143652	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv1023826	chr6:119026481-119221408	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119024200-119029800	Enhancers	Primary B cells from peripheral blood	blood
2	chr6:119025400-119029400	Enhancers	Fetal Muscle Leg	muscle
3	chr6:119025400-119029800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:119026000-119029800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr6:119026200-119028600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:119026200-119029200	Enhancers	Fetal Brain Male	brain
7	chr6:119026600-119029600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:119026800-119029800	Weak transcription	Brain Germinal Matrix	brain
9	chr6:119026800-119030200	Flanking Active TSS	Dnd41	blood
10	chr6:119027000-119030000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:119027000-119030200	Weak transcription	Ovary	ovary
12	chr6:119027200-119029400	Weak transcription	Right Ventricle	heart
13	chr6:119027200-119029400	Weak transcription	Stomach Mucosa	stomach
14	chr6:119027200-119030200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr6:119027200-119030400	Weak transcription	Lung	lung
16	chr6:119027400-119029000	Enhancers	K562	blood
17	chr6:119027400-119029200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:119027400-119029200	Enhancers	Thymus	Thymus
19	chr6:119027400-119029400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:119027400-119029400	Weak transcription	Small Intestine	intestine
21	chr6:119027400-119029600	Weak transcription	Fetal Kidney	kidney
22	chr6:119027400-119029800	Weak transcription	Adipose Nuclei	Adipose
23	chr6:119027400-119029800	Weak transcription	Brain Angular Gyrus	brain
24	chr6:119027400-119029800	Weak transcription	Colon Smooth Muscle	Colon
25	chr6:119027400-119030000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr6:119027400-119030200	Weak transcription	Aorta	Aorta
27	chr6:119027400-119030200	Weak transcription	Colonic Mucosa	Colon
28	chr6:119027400-119030200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr6:119027400-119031200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr6:119027600-119028600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:119027600-119028600	Enhancers	NHDF-Ad	bronchial
32	chr6:119027600-119029000	Enhancers	Primary B cells from cord blood	blood
33	chr6:119027600-119029200	Enhancers	Primary T cells fromperipheralblood	blood
34	chr6:119027600-119029200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr6:119027600-119029200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr6:119027600-119029400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:119027600-119029400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:119027600-119029400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:119027600-119029400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr6:119027600-119029400	Enhancers	HMEC	breast
41	chr6:119027600-119029400	Enhancers	NHLF	lung
42	chr6:119027600-119029600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:119027600-119029600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr6:119027600-119029800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr6:119027600-119029800	Enhancers	Primary hematopoietic stem cells	blood
46	chr6:119027600-119029800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:119027600-119029800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr6:119027600-119029800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr6:119027600-119030000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr6:119027600-119030000	Weak transcription	Stomach Smooth Muscle	stomach

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