Variant report

Variant	rs11964663
Chromosome Location	chr6:30721933-30721934
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30703666..30722133-chr6:30776009..30801352,184	MCF-7	breast:
2	chr6:30719980..30722525-chr6:30838687..30841079,2	K562	blood:
3	chr6:30720410..30722435-chr6:30765919..30768598,2	MCF-7	breast:
4	chr6:30704403..30722478-chr6:30842859..30858629,100	MCF-7	breast:
5	chr6:30703055..30723531-chr6:30783853..30800217,151	MCF-7	breast:
6	chr6:30721626..30724111-chr6:30729705..30731621,2	K562	blood:

Variant related genes	Relation type
ENSG00000204580	Chromatin interaction
ENSG00000214894	Chromatin interaction
ENSG00000237775	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11961980	0.83[EUR][1000 genomes]
rs17195809	0.83[EUR][1000 genomes]
rs61748658	1.00[AMR][1000 genomes]
rs9295900	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
6	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
7	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
8	nsv884100	chr6:30693816-30751326	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
9	nsv884101	chr6:30695920-30733121	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	163 gene(s)	inside rSNPs	diseases
10	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
11	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
12	nsv870418	chr6:30713196-30755668	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv527226	chr6:30716719-30772378	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11964663	PSORS1C1	cis	lymphoblastoid	seeQTL
rs11964663	IER3	cis	lymphoblastoid	seeQTL

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30712600-30724000	Enhancers	HMEC	breast
2	chr6:30715200-30722200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:30717000-30724000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:30717800-30725400	Weak transcription	Spleen	Spleen
5	chr6:30717800-30726800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:30718600-30723600	Weak transcription	Liver	Liver
7	chr6:30719600-30725000	Weak transcription	GM12878-XiMat	blood
8	chr6:30719800-30723200	Enhancers	HSMM	muscle
9	chr6:30719800-30727200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr6:30719800-30731600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr6:30720000-30723200	Enhancers	HSMMtube	muscle
12	chr6:30720000-30724000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:30720000-30724000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr6:30720000-30724000	Enhancers	NHDF-Ad	bronchial
15	chr6:30720000-30724000	Enhancers	Osteobl	bone
16	chr6:30720000-30725800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr6:30720200-30723000	Enhancers	A549	lung
18	chr6:30720200-30723000	Enhancers	NH-A	brain
19	chr6:30720400-30725800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:30720400-30731000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:30720600-30723200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr6:30720600-30723800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:30720600-30736600	Weak transcription	Gastric	stomach
24	chr6:30720800-30722800	Enhancers	Hela-S3	cervix
25	chr6:30720800-30724400	Weak transcription	HepG2	liver
26	chr6:30720800-30727000	Weak transcription	Pancreas	Pancrea
27	chr6:30720800-30727600	Weak transcription	Lung	lung
28	chr6:30720800-30727800	Weak transcription	Esophagus	oesophagus
29	chr6:30721000-30723000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr6:30721000-30723000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr6:30721000-30723200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr6:30721000-30725200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:30721000-30725200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr6:30721000-30725200	Weak transcription	K562	blood
35	chr6:30721000-30725600	Enhancers	NHEK	skin
36	chr6:30721000-30727400	Weak transcription	Aorta	Aorta
37	chr6:30721200-30722400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:30721200-30723600	Weak transcription	Placenta	Placenta
39	chr6:30721200-30723800	Weak transcription	Brain Hippocampus Middle	brain
40	chr6:30721200-30724000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:30721200-30725200	Weak transcription	Right Atrium	heart
42	chr6:30721200-30725200	Weak transcription	Right Ventricle	heart
43	chr6:30721200-30725400	Weak transcription	Left Ventricle	heart
44	chr6:30721200-30725800	Weak transcription	Small Intestine	intestine
45	chr6:30721200-30726400	Weak transcription	Adipose Nuclei	Adipose
46	chr6:30721200-30726800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:30721200-30727000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr6:30721200-30727600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:30721400-30722600	Weak transcription	NHLF	lung
50	chr6:30721400-30722800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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