Variant report

Variant	rs62491097
Chromosome Location	chr7:112571232-112571233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112569568..112571455-chr7:112579198..112581204,2	K562	blood:
2	chr7:112569158..112571513-chr7:112600317..112602732,2	MCF-7	breast:
3	chr7:112567908..112571735-chr7:112573454..112577571,5	K562	blood:
4	chr7:112570828..112572973-chr7:112579536..112581070,2	MCF-7	breast:
5	chr7:112570140..112571733-chr7:112574032..112575624,2	MCF-7	breast:
6	chr7:112569955..112573095-chr7:112578523..112581204,3	K562	blood:

Variant related genes	Relation type
ENSG00000164603	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10243834	0.93[ASN][1000 genomes]
rs10249952	0.90[ASN][1000 genomes]
rs10272143	0.93[ASN][1000 genomes]
rs10275208	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10280618	0.83[ASN][1000 genomes]
rs10280825	0.83[ASN][1000 genomes]
rs1044262	0.86[ASN][1000 genomes]
rs10500014	0.89[ASN][1000 genomes]
rs11762737	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11768408	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768787	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1530756	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17160078	0.90[ASN][1000 genomes]
rs17405723	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1976897	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1992988	1.00[ASN][1000 genomes]
rs2396583	0.83[ASN][1000 genomes]
rs35983930	0.89[ASN][1000 genomes]
rs62472534	0.82[ASN][1000 genomes]
rs62472536	0.89[ASN][1000 genomes]
rs62491096	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62491099	1.00[ASN][1000 genomes]
rs6466423	0.83[ASN][1000 genomes]
rs6944843	0.90[ASN][1000 genomes]
rs73196926	0.89[ASN][1000 genomes]
rs7789589	0.80[ASN][1000 genomes]
rs7808616	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2754368	chr7:112483049-112588049	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats 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	3 gene(s)	inside rSNPs	diseases
4	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112530400-112576600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr7:112541400-112578800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:112549400-112574200	Weak transcription	Fetal Brain Female	brain
4	chr7:112551600-112575600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:112551600-112575800	Weak transcription	GM12878-XiMat	blood
6	chr7:112551600-112576200	Weak transcription	Ovary	ovary
7	chr7:112551600-112577400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:112551600-112578600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr7:112551600-112579400	Weak transcription	Spleen	Spleen
10	chr7:112553800-112578800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:112554000-112577200	Weak transcription	Primary B cells from cord blood	blood
12	chr7:112555400-112578000	Weak transcription	Adipose Nuclei	Adipose
13	chr7:112555600-112572600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr7:112556000-112573600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:112556200-112575800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr7:112556800-112573000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:112556800-112576200	Weak transcription	Left Ventricle	heart
18	chr7:112556800-112577600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:112557000-112578600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr7:112562200-112572600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:112562800-112576400	Weak transcription	Fetal Intestine Small	intestine
22	chr7:112563200-112578200	Weak transcription	HUVEC	blood vessel
23	chr7:112565200-112578600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:112566800-112572600	Weak transcription	Fetal Heart	heart
25	chr7:112568400-112576200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr7:112568400-112578200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr7:112569200-112571800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:112569200-112571800	Enhancers	Osteobl	bone
29	chr7:112569400-112571800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:112569400-112571800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr7:112569800-112571800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:112569800-112575600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:112569800-112576200	Weak transcription	Fetal Intestine Large	intestine
34	chr7:112570000-112571800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr7:112570200-112571400	Enhancers	HMEC	breast
36	chr7:112570200-112571600	Enhancers	NHDF-Ad	bronchial
37	chr7:112570200-112571800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr7:112570200-112571800	Enhancers	HepG2	liver
39	chr7:112570200-112571800	Enhancers	HSMMtube	muscle
40	chr7:112570200-112572000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr7:112570200-112572800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr7:112570400-112572000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr7:112570400-112578400	Weak transcription	NH-A	brain
44	chr7:112570600-112571400	Enhancers	Primary T cells from cord blood	blood
45	chr7:112570600-112571600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr7:112570600-112571600	Enhancers	Brain Germinal Matrix	brain
47	chr7:112570600-112571800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:112570600-112571800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:112570600-112571800	Enhancers	Brain Angular Gyrus	brain
50	chr7:112570600-112572000	Enhancers	HUES48 Cell Line	embryonic stem cell

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