Variant report

Variant	rs60185956
Chromosome Location	chr7:11015730-11015731
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:10972604..10974747-chr7:11013678..11015868,2	K562	blood:
2	chr7:10975906..10982429-chr7:11007978..11018673,26	K562	blood:
3	chr7:10977305..10982144-chr7:11011875..11016071,10	MCF-7	breast:
4	chr7:11011659..11015162-chr7:11015338..11021925,15	MCF-7	breast:
5	chr7:11013556..11016152-chr7:11041534..11043076,2	MCF-7	breast:
6	chr7:11013088..11016193-chr7:11045661..11047742,3	MCF-7	breast:
7	chr7:10472835..10475616-chr7:11015064..11018005,2	K562	blood:
8	chr7:10978101..10982429-chr7:11011509..11017731,20	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106443	Chromatin interaction
ENSG00000230370	Chromatin interaction
ENSG00000271185	Chromatin interaction
ENSG00000189043	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs57327184	1.00[AMR][1000 genomes]
rs57337126	1.00[AMR][1000 genomes]
rs57622089	1.00[AMR][1000 genomes]
rs57841461	1.00[AMR][1000 genomes]
rs59807745	1.00[AMR][1000 genomes]
rs60450844	1.00[AMR][1000 genomes]
rs60879362	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61302979	1.00[AMR][1000 genomes]
rs61707274	1.00[AMR][1000 genomes]
rs6949600	1.00[AMR][1000 genomes]
rs6967802	1.00[AMR][1000 genomes]
rs6971440	1.00[AMR][1000 genomes]
rs6977077	1.00[AMR][1000 genomes]
rs73678543	1.00[AMR][1000 genomes]
rs73678568	1.00[AMR][1000 genomes]
rs73678575	1.00[AMR][1000 genomes]
rs7792307	1.00[AMR][1000 genomes]
rs7800938	1.00[AMR][1000 genomes]
rs7808367	1.00[AMR][1000 genomes]
rs7810668	1.00[AMR][1000 genomes]
rs7811647	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067780	chr7:10649696-11329787	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats 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	29 gene(s)	inside rSNPs	diseases
2	nsv491695	chr7:10649696-11329787	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats 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	31 gene(s)	inside rSNPs	diseases
6	nsv532092	chr7:10731350-11414759	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv887600	chr7:10807685-11090546	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv949387	chr7:10815994-11281536	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
10	esv2752140	chr7:10817060-11029748	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv1029882	chr7:10872162-11371145	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers 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	30 gene(s)	inside rSNPs	diseases
13	nsv1031498	chr7:10882696-11110412	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv887601	chr7:10912949-11049523	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11012400-11015800	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr7:11012400-11016000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:11014200-11038600	Weak transcription	Small Intestine	intestine
4	chr7:11014400-11015800	Enhancers	Stomach Mucosa	stomach
5	chr7:11014400-11016800	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr7:11014400-11017600	Weak transcription	Gastric	stomach
7	chr7:11014400-11022200	Weak transcription	Esophagus	oesophagus
8	chr7:11014400-11022200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:11014400-11031800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:11014400-11033200	Weak transcription	Left Ventricle	heart
11	chr7:11014600-11015800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:11014600-11016200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:11014600-11018000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr7:11014600-11018200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:11014600-11018200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:11014600-11018200	Weak transcription	Pancreas	Pancrea
17	chr7:11014600-11018200	Weak transcription	Spleen	Spleen
18	chr7:11014600-11021800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:11014600-11022200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:11014600-11022200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:11014600-11022200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:11014600-11022200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:11014600-11022200	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:11014600-11022200	Weak transcription	Lung	lung
25	chr7:11014600-11032800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:11014600-11035000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr7:11014600-11035000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:11014600-11035000	Weak transcription	Placenta	Placenta
29	chr7:11014600-11035200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:11014600-11038600	Weak transcription	Psoas Muscle	Psoas
31	chr7:11014600-11045400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr7:11014600-11092000	Weak transcription	Colonic Mucosa	Colon
33	chr7:11014800-11015800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr7:11014800-11015800	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr7:11014800-11016000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr7:11014800-11016000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr7:11014800-11016000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:11014800-11017400	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr7:11014800-11017600	Weak transcription	Brain Angular Gyrus	brain
40	chr7:11014800-11018200	Weak transcription	Ovary	ovary
41	chr7:11014800-11018200	Weak transcription	Right Atrium	heart
42	chr7:11014800-11020400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:11014800-11021800	Weak transcription	NH-A	brain
44	chr7:11014800-11022000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr7:11014800-11022200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:11014800-11022200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr7:11014800-11022200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:11014800-11022200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr7:11014800-11022200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:11014800-11022200	Weak transcription	Adipose Nuclei	Adipose

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