Variant report

Variant	rs11965214
Chromosome Location	chr6:30647005-30647006
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30646432..30647241-chr6:30693199..30694158,2	K562	blood:
2	chr6:30643140..30646430-chr6:30646778..30649546,3	MCF-7	breast:
3	chr6:30646636..30647399-chr6:30690429..30691049,3	MCF-7	breast:
4	chr6:30646224..30648550-chr6:30708857..30711980,3	MCF-7	breast:
5	chr6:30646692..30647419-chr6:30698658..30699269,4	MCF-7	breast:
6	chr6:30643326..30660432-chr6:30681522..30696111,127	MCF-7	breast:
7	chr6:30646445..30647184-chr6:30689209..30689746,2	K562	blood:
8	chr6:30524651..30526287-chr6:30646333..30647900,2	K562	blood:
9	chr6:30646385..30647034-chr6:30845206..30845866,2	K562	blood:
10	chr6:30646431..30647401-chr6:30690082..30691095,13	MCF-7	breast:
11	chr6:30634661..30668428-chr6:30680318..30698953,145	MCF-7	breast:
12	chr6:30646446..30647403-chr6:30689906..30691430,10	K562	blood:
13	chr6:30646469..30647409-chr6:31047261..31047791,2	K562	blood:
14	chr6:30639491..30642399-chr6:30642819..30647161,4	MCF-7	breast:
15	chr6:30642470..30648471-chr6:30697241..30700740,8	MCF-7	breast:
16	chr6:30646486..30647794-chr6:30698350..30699317,4	K562	blood:
17	chr6:30646480..30647384-chr6:30684921..30685946,3	K562	blood:
18	chr6:30577127..30589352-chr6:30620628..30648657,88	K562	blood:
19	chr6:30645233..30648290-chr6:30849702..30853210,4	MCF-7	breast:
20	chr6:30646332..30647297-chr6:30698013..30699287,6	MCF-7	breast:
21	chr6:30643814..30650234-chr6:30705979..30710789,12	MCF-7	breast:
22	chr6:30582956..30585804-chr6:30643199..30647453,3	MCF-7	breast:
23	chr6:30646395..30649153-chr6:30705465..30707695,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000204580	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000272540	Chromatin interaction
ENSG00000204560	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000137337	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10484552	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28780108	0.81[ASN][1000 genomes]
rs28894081	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28986316	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28986317	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34890315	0.83[ASN][1000 genomes]
rs35554791	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3873304	0.83[ASN][1000 genomes]
rs41315800	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
5	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
6	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases
7	nsv884094	chr6:30637998-30660611	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
9	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
10	nsv884095	chr6:30644987-30664567	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30640800-30649600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:30641000-30647600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:30641000-30650000	Weak transcription	Psoas Muscle	Psoas
4	chr6:30643600-30647400	Strong transcription	HSMMtube	muscle
5	chr6:30644000-30648000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:30644200-30653800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:30644800-30647400	Weak transcription	Brain Angular Gyrus	brain
8	chr6:30645000-30651800	Weak transcription	Ovary	ovary
9	chr6:30645400-30647600	Weak transcription	Gastric	stomach
10	chr6:30645400-30647600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:30645400-30650200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:30645600-30647600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:30646200-30649600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:30646400-30648800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:30646400-30649000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:30646600-30647200	Genic enhancers	Duodenum Smooth Muscle	Duodenum
17	chr6:30646600-30647400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:30646600-30647400	Genic enhancers	Hela-S3	cervix
19	chr6:30646600-30647400	Genic enhancers	NHDF-Ad	bronchial
20	chr6:30646600-30647400	Genic enhancers	NHEK	skin
21	chr6:30646600-30647600	Enhancers	Brain Cingulate Gyrus	brain
22	chr6:30646600-30647800	Genic enhancers	HUES48 Cell Line	embryonic stem cell
23	chr6:30646600-30647800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr6:30646600-30648000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr6:30646600-30648200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
26	chr6:30646600-30648400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:30646600-30648400	Genic enhancers	Fetal Intestine Small	intestine
28	chr6:30646600-30648400	Genic enhancers	Placenta	Placenta
29	chr6:30646600-30648600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
30	chr6:30646600-30649200	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
31	chr6:30646600-30649200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
32	chr6:30646600-30649400	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
33	chr6:30646600-30649400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:30646600-30649600	Genic enhancers	Right Ventricle	heart
35	chr6:30646600-30650600	Enhancers	Fetal Brain Male	brain
36	chr6:30646600-30653400	Transcr. at gene 5' and 3'	NHLF	lung
37	chr6:30646600-30653800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:30646800-30647200	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr6:30646800-30647200	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr6:30646800-30647200	Transcr. at gene 5' and 3'	Lung	lung
41	chr6:30646800-30647200	Enhancers	Pancreas	Pancrea
42	chr6:30646800-30647400	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:30646800-30647400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:30646800-30647400	Enhancers	Primary B cells from cord blood	blood
45	chr6:30646800-30647400	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr6:30646800-30647400	Active TSS	GM12878-XiMat	blood
47	chr6:30646800-30647600	Genic enhancers	Adipose Nuclei	Adipose
48	chr6:30646800-30647600	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr6:30646800-30647600	Genic enhancers	Brain Germinal Matrix	brain
50	chr6:30646800-30647600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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