Variant report

Variant	rs7952248
Chromosome Location	chr11:67355319-67355320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67353656..67356234-chr11:67410446..67412031,2	K562	blood:
2	chr11:67354037..67356908-chr11:67394596..67396788,2	K562	blood:
3	chr11:67353657..67355705-chr11:67384092..67385924,2	K562	blood:
4	chr11:67347575..67355744-chr11:67372717..67376912,13	K562	blood:
5	chr11:67347249..67355748-chr11:67372717..67377095,16	K562	blood:

Variant related genes	Relation type
ENSG00000255119	Chromatin interaction
ENSG00000167792	Chromatin interaction
ENSG00000184224	Chromatin interaction
ENSG00000255318	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs11227845	0.81[ASN][1000 genomes]
rs11603735	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1695	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1871042	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4244823	0.81[ASN][1000 genomes]
rs4360710	0.83[ASN][1000 genomes]
rs4891	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591258	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6591259	0.81[ASN][1000 genomes]
rs7106675	0.81[ASN][1000 genomes]
rs7108038	0.81[ASN][1000 genomes]
rs7108149	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs749174	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7937159	0.81[ASN][1000 genomes]
rs7939505	0.81[ASN][1000 genomes]
rs947895	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7952248	DOC2GP	cis	Artery Tibial	GTEx
rs7952248	NUDT8	cis	Heart Left Ventricle	GTEx
rs7952248	RP11-655M14.12	cis	Muscle Skeletal	GTEx
rs7952248	PTPRCAP	cis	Nerve Tibial	GTEx
rs7952248	DOC2GP	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67351800-67358600	Weak transcription	Primary T cells from cord blood	blood
2	chr11:67352200-67355600	Enhancers	Primary B cells from cord blood	blood
3	chr11:67352400-67356200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr11:67352600-67358400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:67352600-67359800	Weak transcription	Right Atrium	heart
6	chr11:67352600-67360200	Weak transcription	Brain Angular Gyrus	brain
7	chr11:67352800-67355800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:67352800-67355800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:67352800-67357000	Weak transcription	NHDF-Ad	bronchial
10	chr11:67353000-67355800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:67353000-67357400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:67353200-67355600	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr11:67353200-67355800	Strong transcription	Fetal Lung	lung
14	chr11:67353200-67355800	Strong transcription	Osteobl	bone
15	chr11:67353200-67356200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:67353200-67356200	Strong transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:67353200-67357000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:67353200-67357000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:67353200-67357000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:67353200-67357200	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:67353200-67357600	Strong transcription	Adipose Nuclei	Adipose
22	chr11:67353200-67358800	Weak transcription	Fetal Brain Male	brain
23	chr11:67353400-67355800	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:67353400-67355800	Strong transcription	Brain Anterior Caudate	brain
25	chr11:67353400-67355800	Strong transcription	Fetal Intestine Large	intestine
26	chr11:67353400-67355800	Strong transcription	HUVEC	blood vessel
27	chr11:67353400-67356000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:67353400-67356000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:67353400-67356600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr11:67353400-67356800	Weak transcription	Fetal Heart	heart
31	chr11:67353400-67357000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:67353600-67355800	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:67353600-67355800	Strong transcription	HSMM	muscle
34	chr11:67353600-67356000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:67353600-67358400	Enhancers	Primary B cells from peripheral blood	blood
36	chr11:67353800-67356000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:67353800-67356000	Strong transcription	NHLF	lung
38	chr11:67353800-67356200	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr11:67353800-67357600	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:67354000-67355800	Strong transcription	Fetal Kidney	kidney
41	chr11:67354000-67355800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:67354000-67356000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr11:67354000-67356000	Strong transcription	HMEC	breast
44	chr11:67354000-67356000	Strong transcription	NHEK	skin
45	chr11:67354000-67356200	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr11:67354000-67356200	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr11:67354000-67356200	Weak transcription	Small Intestine	intestine
48	chr11:67354000-67356800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:67354000-67357000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:67354000-67357000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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