Variant report

Variant	rs7939505
Chromosome Location	chr11:67359090-67359091
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67358777..67361630-chr11:67367886..67369459,2	K562	blood:
2	chr11:67355448..67359468-chr11:67373410..67375922,3	MCF-7	breast:
3	chr11:67351136..67354187-chr11:67356104..67360261,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000084207	Chromatin interaction
ENSG00000167792	Chromatin interaction
ENSG00000184224	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11227845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227862	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11603735	0.80[EUR][1000 genomes]
rs11603991	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12416994	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12421329	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12790798	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12792496	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12793832	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12798262	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1871043	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2187002	0.85[ASN][1000 genomes]
rs2447595	0.85[ASN][1000 genomes]
rs2509709	0.81[ASN][1000 genomes]
rs2514017	0.83[ASN][1000 genomes]
rs2514022	0.81[ASN][1000 genomes]
rs4024254	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4148959	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4148960	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4244823	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4360710	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4891	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4930450	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6591259	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103632	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7108038	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108149	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7130679	0.85[ASN][1000 genomes]
rs7937159	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7948073	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7950707	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7952248	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers 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	271 gene(s)	inside rSNPs	diseases
2	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer 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	176 gene(s)	inside rSNPs	diseases
4	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
5	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
6	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription 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 miRNA target site	146 gene(s)	inside rSNPs	diseases
7	nsv1041988	chr11:67319916-67749246	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
8	nsv897814	chr11:67339949-67460529	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	nsv1050463	chr11:67343421-67717338	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
10	nsv1038189	chr11:67345320-67749246	Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
11	nsv1047236	chr11:67345320-67764068	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
12	nsv555268	chr11:67346743-67752972	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
13	nsv1036101	chr11:67346813-67828351	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
14	nsv541079	chr11:67346813-67828351	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
15	nsv897815	chr11:67347595-67408791	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS 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	47 gene(s)	inside rSNPs	diseases
16	nsv1053811	chr11:67349444-67749246	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
17	esv1817852	chr11:67349899-67626567	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
18	nsv468606	chr11:67352689-67816936	Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
19	nsv555269	chr11:67352689-67816936	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic 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	136 gene(s)	inside rSNPs	diseases
20	nsv897816	chr11:67353579-67460529	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription 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	49 gene(s)	inside rSNPs	diseases
21	nsv1041887	chr11:67357365-67464893	Flanking Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
22	nsv541080	chr11:67357365-67464893	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
23	nsv529452	chr11:67358204-67465721	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
24	nsv492253	chr11:67358204-67574402	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7939505	DOC2GP	cis	Artery Tibial	GTEx
rs7939505	DOC2GP	cis	Skin Sun Exposed Lower leg	GTEx
rs7939505	RP11-655M14.12	cis	Muscle Skeletal	GTEx
rs7939505	NDUFV1	cis	Thyroid	GTEx
rs7939505	NUDT8	cis	Heart Left Ventricle	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67352600-67359800	Weak transcription	Right Atrium	heart
2	chr11:67352600-67360200	Weak transcription	Brain Angular Gyrus	brain
3	chr11:67354200-67359600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr11:67354600-67359200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr11:67354600-67359800	Weak transcription	Spleen	Spleen
6	chr11:67354600-67360400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:67354600-67360400	Weak transcription	Esophagus	oesophagus
8	chr11:67354600-67360600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:67354600-67360800	Weak transcription	Ovary	ovary
10	chr11:67354800-67360200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:67355000-67373200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:67355400-67360600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:67355800-67359200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:67355800-67359200	Weak transcription	HSMM	muscle
15	chr11:67355800-67359200	Weak transcription	Osteobl	bone
16	chr11:67355800-67359800	Weak transcription	NH-A	brain
17	chr11:67355800-67360200	Weak transcription	HUVEC	blood vessel
18	chr11:67355800-67360400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:67355800-67360400	Weak transcription	Fetal Intestine Large	intestine
20	chr11:67355800-67360800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:67355800-67363600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:67355800-67368600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr11:67356000-67359200	Weak transcription	NHLF	lung
24	chr11:67356000-67360200	Weak transcription	HMEC	breast
25	chr11:67356000-67360200	Weak transcription	NHEK	skin
26	chr11:67356000-67360600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:67356200-67359600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:67356200-67360200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:67356200-67360400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:67356200-67373800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:67356600-67360000	Weak transcription	Fetal Muscle Leg	muscle
32	chr11:67356600-67360400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:67356600-67360600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr11:67356800-67359600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr11:67356800-67359800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr11:67356800-67360200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:67356800-67360400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:67356800-67360600	Weak transcription	Fetal Intestine Small	intestine
39	chr11:67356800-67362200	Weak transcription	Aorta	Aorta
40	chr11:67357000-67359200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:67357000-67359200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:67357000-67359200	Weak transcription	Fetal Kidney	kidney
43	chr11:67357000-67359400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:67357000-67359400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:67357000-67360200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:67357000-67360200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:67357000-67360400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:67357000-67360800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:67357000-67360800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:67357000-67361000	Weak transcription	K562	blood

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