Variant report

Variant	rs62622397
Chromosome Location	chr7:102939019-102939020
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:102787809..102789430-chr7:102937893..102939792,2	MCF-7	breast:
2	chr7:102938125..102939951-chr7:102963643..102966218,2	K562	blood:
3	chr7:102937260..102939405-chr7:102983367..102989226,6	MCF-7	breast:
4	chr7:102936427..102940589-chr7:102983649..102988902,7	K562	blood:
5	chr7:102936363..102940498-chr7:102983696..102986201,5	K562	blood:
6	chr7:102788341..102791545-chr7:102935934..102939308,4	K562	blood:
7	chr7:102936543..102939393-chr7:103085608..103089565,4	MCF-7	breast:
8	chr7:102937219..102940435-chr7:102985734..102988691,4	MCF-7	breast:
9	chr7:102788463..102790768-chr7:102937238..102939346,3	K562	blood:
10	chr7:102937906..102941982-chr7:102947783..102950919,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000161048	Chromatin interaction
ENSG00000235354	Chromatin interaction
ENSG00000105821	Chromatin interaction
ENSG00000170615	Chromatin interaction
ENSG00000234715	Chromatin interaction
ENSG00000161057	Chromatin interaction

Extended variants
information (count: 132 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10229137	1.00[EUR][1000 genomes]
rs10230157	1.00[EUR][1000 genomes]
rs10240086	1.00[EUR][1000 genomes]
rs10245834	1.00[EUR][1000 genomes]
rs10248886	1.00[EUR][1000 genomes]
rs10251993	1.00[EUR][1000 genomes]
rs10252434	1.00[EUR][1000 genomes]
rs10260344	1.00[EUR][1000 genomes]
rs10264869	1.00[EUR][1000 genomes]
rs10268112	1.00[EUR][1000 genomes]
rs10268849	1.00[EUR][1000 genomes]
rs10273883	1.00[EUR][1000 genomes]
rs10480646	1.00[EUR][1000 genomes]
rs10808123	1.00[EUR][1000 genomes]
rs10808124	1.00[EUR][1000 genomes]
rs10808125	1.00[EUR][1000 genomes]
rs10808127	1.00[EUR][1000 genomes]
rs11560367	1.00[EUR][1000 genomes]
rs11760826	1.00[EUR][1000 genomes]
rs11765948	1.00[EUR][1000 genomes]
rs11772979	1.00[EUR][1000 genomes]
rs11773883	1.00[EUR][1000 genomes]
rs11981558	1.00[EUR][1000 genomes]
rs12155099	1.00[EUR][1000 genomes]
rs12539639	1.00[EUR][1000 genomes]
rs13225565	1.00[EUR][1000 genomes]
rs13226097	1.00[EUR][1000 genomes]
rs13242079	1.00[EUR][1000 genomes]
rs13247932	1.00[EUR][1000 genomes]
rs1404213	1.00[EUR][1000 genomes]
rs1477159	1.00[EUR][1000 genomes]
rs1477161	1.00[EUR][1000 genomes]
rs1477162	1.00[EUR][1000 genomes]
rs1477163	1.00[EUR][1000 genomes]
rs1558853	1.00[EUR][1000 genomes]
rs1861725	1.00[EUR][1000 genomes]
rs1861726	1.00[EUR][1000 genomes]
rs1861728	1.00[EUR][1000 genomes]
rs1861730	1.00[EUR][1000 genomes]
rs1861732	1.00[EUR][1000 genomes]
rs1968198	1.00[EUR][1000 genomes]
rs1968199	1.00[EUR][1000 genomes]
rs1968202	1.00[EUR][1000 genomes]
rs1974715	1.00[EUR][1000 genomes]
rs1974716	1.00[EUR][1000 genomes]
rs2015289	1.00[EUR][1000 genomes]
rs2041949	1.00[EUR][1000 genomes]
rs2098447	1.00[EUR][1000 genomes]
rs2111381	1.00[EUR][1000 genomes]
rs2193418	1.00[EUR][1000 genomes]
rs2411079	1.00[EUR][1000 genomes]
rs2411081	1.00[EUR][1000 genomes]
rs2411082	1.00[EUR][1000 genomes]
rs28446682	1.00[EUR][1000 genomes]
rs28532043	1.00[EUR][1000 genomes]
rs2898640	1.00[EUR][1000 genomes]
rs2965097	1.00[EUR][1000 genomes]
rs3181009	1.00[EUR][1000 genomes]
rs4295594	1.00[EUR][1000 genomes]
rs4530973	1.00[EUR][1000 genomes]
rs4727560	1.00[EUR][1000 genomes]
rs4727561	1.00[EUR][1000 genomes]
rs4729868	1.00[EUR][1000 genomes]
rs4729869	1.00[EUR][1000 genomes]
rs4729870	1.00[EUR][1000 genomes]
rs4729871	1.00[EUR][1000 genomes]
rs4729872	1.00[EUR][1000 genomes]
rs4729875	1.00[EUR][1000 genomes]
rs4729876	1.00[EUR][1000 genomes]
rs4729878	1.00[EUR][1000 genomes]
rs4729882	1.00[EUR][1000 genomes]
rs4729883	1.00[EUR][1000 genomes]
rs4729884	1.00[EUR][1000 genomes]
rs4729892	1.00[EUR][1000 genomes]
rs59179196	1.00[EUR][1000 genomes]
rs59182081	1.00[EUR][1000 genomes]
rs59586827	1.00[EUR][1000 genomes]
rs59773217	1.00[EUR][1000 genomes]
rs60006777	1.00[EUR][1000 genomes]
rs61613960	1.00[EUR][1000 genomes]
rs6465891	1.00[EUR][1000 genomes]
rs6465892	1.00[EUR][1000 genomes]
rs6465898	1.00[EUR][1000 genomes]
rs6465902	1.00[EUR][1000 genomes]
rs6465905	1.00[EUR][1000 genomes]
rs6465907	1.00[EUR][1000 genomes]
rs6465911	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6944809	1.00[EUR][1000 genomes]
rs6945578	1.00[EUR][1000 genomes]
rs6946968	1.00[EUR][1000 genomes]
rs6946989	1.00[EUR][1000 genomes]
rs6947777	1.00[EUR][1000 genomes]
rs6950177	1.00[EUR][1000 genomes]
rs6955436	1.00[EUR][1000 genomes]
rs6959711	1.00[EUR][1000 genomes]
rs6964822	1.00[EUR][1000 genomes]
rs6966872	1.00[EUR][1000 genomes]
rs6966961	1.00[EUR][1000 genomes]
rs6973702	1.00[EUR][1000 genomes]
rs6973787	1.00[EUR][1000 genomes]
rs6976034	1.00[EUR][1000 genomes]
rs6976290	1.00[EUR][1000 genomes]
rs6976794	1.00[EUR][1000 genomes]
rs6977206	1.00[EUR][1000 genomes]
rs6979140	1.00[EUR][1000 genomes]
rs6979470	1.00[EUR][1000 genomes]
rs732768	1.00[EUR][1000 genomes]
rs73410143	1.00[EUR][1000 genomes]
rs73412168	1.00[EUR][1000 genomes]
rs73412171	1.00[EUR][1000 genomes]
rs73412175	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73414107	1.00[EUR][1000 genomes]
rs7349957	1.00[EUR][1000 genomes]
rs7350051	1.00[EUR][1000 genomes]
rs73712383	1.00[EUR][1000 genomes]
rs73712388	1.00[EUR][1000 genomes]
rs73712399	1.00[EUR][1000 genomes]
rs7782147	1.00[EUR][1000 genomes]
rs7783856	1.00[EUR][1000 genomes]
rs7784337	1.00[EUR][1000 genomes]
rs7792240	1.00[EUR][1000 genomes]
rs7792779	1.00[EUR][1000 genomes]
rs7804961	0.87[AMR][1000 genomes]
rs7811224	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7811571	1.00[EUR][1000 genomes]
rs9640672	1.00[EUR][1000 genomes]
rs9641307	1.00[EUR][1000 genomes]
rs9641308	1.00[EUR][1000 genomes]
rs9691829	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv831084	chr7:102778908-102964970	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1030446	chr7:102932689-103221638	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers 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	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62622397	ENSG00000105819	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102937200-102939400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:102937400-102939200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr7:102937400-102939200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:102937600-102939400	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr7:102937600-102939400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr7:102937800-102939400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr7:102937800-102939600	Active TSS	GM12878-XiMat	blood
8	chr7:102938200-102939200	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr7:102938200-102939200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr7:102938200-102939200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr7:102938200-102939200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr7:102938200-102939400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:102938400-102939200	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr7:102938400-102939200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:102938400-102939200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:102938400-102939200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr7:102938400-102939200	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr7:102938400-102939200	Flanking Active TSS	Brain Substantia Nigra	brain
19	chr7:102938400-102939200	Flanking Active TSS	Rectal Smooth Muscle	rectum
20	chr7:102938400-102939200	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr7:102938400-102939400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr7:102938400-102939400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:102938400-102939400	Flanking Active TSS	Liver	Liver
24	chr7:102938400-102940200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:102938400-102957000	Weak transcription	Spleen	Spleen
26	chr7:102938600-102939200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:102938600-102939200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr7:102938600-102939200	Enhancers	Primary B cells from peripheral blood	blood
29	chr7:102938600-102939200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr7:102938600-102939200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:102938600-102939200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:102938600-102939200	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr7:102938600-102939200	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr7:102938600-102939200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:102938600-102939200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr7:102938600-102939200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr7:102938600-102939200	Enhancers	Placenta	Placenta
38	chr7:102938600-102939200	Weak transcription	Left Ventricle	heart
39	chr7:102938600-102939200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr7:102938600-102939200	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr7:102938600-102939200	Flanking Active TSS	Osteobl	bone
42	chr7:102938600-102939400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:102938600-102939400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:102938600-102939400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr7:102938600-102939400	Flanking Active TSS	Fetal Brain Female	brain
46	chr7:102938600-102939400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr7:102938600-102939400	Flanking Active TSS	NH-A	brain
48	chr7:102938600-102939600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:102938600-102939600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:102938600-102939600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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