Variant report

Variant	rs11773251
Chromosome Location	chr7:128030577-128030578
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127996352..127999445-chr7:128029289..128030923,3	K562	blood:
2	chr7:127996426..127998366-chr7:128029110..128031908,2	MCF-7	breast:
3	chr7:128028657..128031513-chr7:128044635..128046587,2	MCF-7	breast:
4	chr7:127981942..127985449-chr7:128028066..128032035,3	K562	blood:
5	chr7:127988812..127991042-chr7:128030050..128032695,3	MCF-7	breast:
6	chr7:127992082..127994842-chr7:128029852..128032073,3	K562	blood:
7	chr7:127993298..127995820-chr7:128029600..128032073,2	K562	blood:
8	chr7:127985563..127989260-chr7:128027649..128030802,6	K562	blood:
9	chr7:127978973..127980473-chr7:128029523..128031461,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000238750	Chromatin interaction
ENSG00000106344	Chromatin interaction
ENSG00000106348	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10954184	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11765126	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11973781	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11977296	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11981766	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11982673	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11983847	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12536006	0.89[ASN][1000 genomes]
rs12706850	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12706851	0.82[ASN][1000 genomes]
rs13221784	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13222212	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13227646	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13242340	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13312278	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2076805	0.82[ASN][1000 genomes]
rs2228075	0.96[ASN][1000 genomes]
rs2278294	0.83[EUR][1000 genomes]
rs34848853	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35649907	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6975115	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7802305	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv608400	chr7:127978820-128048194	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	esv2493565	chr7:127985695-128053377	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3478325	chr7:127986726-128053483	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv3478326	chr7:127986726-128053483	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv3421306	chr7:128028266-128031064	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11773251	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx
rs11773251	IMPDH1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128002400-128044400	Weak transcription	Right Atrium	heart
2	chr7:128021000-128032200	Weak transcription	Colonic Mucosa	Colon
3	chr7:128021400-128031200	Weak transcription	Lung	lung
4	chr7:128021600-128031600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:128021800-128031200	Weak transcription	A549	lung
6	chr7:128021800-128032600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:128024200-128034600	Weak transcription	HMEC	breast
8	chr7:128024600-128031800	Weak transcription	Aorta	Aorta
9	chr7:128027600-128033200	Weak transcription	Brain Angular Gyrus	brain
10	chr7:128027800-128031800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:128027800-128031800	Weak transcription	Ovary	ovary
12	chr7:128027800-128033800	Weak transcription	Brain Anterior Caudate	brain
13	chr7:128027800-128042800	Weak transcription	Fetal Brain Male	brain
14	chr7:128028000-128031600	Weak transcription	Brain Germinal Matrix	brain
15	chr7:128028000-128031600	Weak transcription	Fetal Brain Female	brain
16	chr7:128028000-128031800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:128028000-128032400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr7:128028000-128035600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr7:128028000-128045200	Weak transcription	Small Intestine	intestine
20	chr7:128028200-128031400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:128028200-128031600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr7:128028200-128031600	Weak transcription	Adipose Nuclei	Adipose
23	chr7:128028200-128031800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:128028200-128032600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:128028200-128033000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr7:128028200-128033200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:128028200-128033200	Weak transcription	Brain Substantia Nigra	brain
28	chr7:128028200-128033400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:128028200-128033400	Weak transcription	Left Ventricle	heart
30	chr7:128028200-128033800	Weak transcription	Colon Smooth Muscle	Colon
31	chr7:128028200-128034000	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:128028200-128034200	Weak transcription	HSMMtube	muscle
33	chr7:128028200-128034400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:128028200-128036800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr7:128028200-128036800	Weak transcription	Dnd41	blood
36	chr7:128028200-128037000	Weak transcription	Liver	Liver
37	chr7:128028400-128031000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr7:128028400-128033200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr7:128028400-128034400	Weak transcription	K562	blood
40	chr7:128028400-128034600	Weak transcription	Osteobl	bone
41	chr7:128028400-128044600	Weak transcription	Fetal Heart	heart
42	chr7:128028600-128031200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:128028800-128031800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:128028800-128035600	Weak transcription	NHDF-Ad	bronchial
45	chr7:128028800-128037200	Weak transcription	Primary B cells from cord blood	blood
46	chr7:128029000-128030800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr7:128029000-128034000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr7:128029200-128031800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr7:128029200-128032000	Enhancers	Primary hematopoietic stem cells	blood
50	chr7:128029200-128033400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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