Variant report

Variant	rs12531903
Chromosome Location	chr7:107807990-107807991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107805156..107808052-chr7:107808628..107811838,4	K562	blood:
2	chr7:107803801..107808052-chr7:107808628..107811688,3	K562	blood:
3	chr7:107806434..107808265-chr7:107813205..107815198,2	K562	blood:
4	chr7:107806656..107809513-chr7:107822092..107824990,2	MCF-7	breast:
5	chr7:107807826..107809750-chr7:107851888..107853621,2	MCF-7	breast:
6	chr7:107798997..107800868-chr7:107805789..107808643,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10224607	1.00[CEU][hapmap]
rs10257555	1.00[CEU][hapmap]
rs10464622	1.00[CEU][hapmap]
rs10464628	1.00[CEU][hapmap]
rs11763780	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11772445	1.00[CHB][hapmap];0.93[JPT][hapmap];0.99[ASN][1000 genomes]
rs12537654	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12669568	1.00[CEU][hapmap]
rs12670313	0.90[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs16872446	1.00[CEU][hapmap]
rs16872448	1.00[CEU][hapmap]
rs16872449	1.00[CEU][hapmap]
rs16872465	1.00[CEU][hapmap]
rs16872472	1.00[CEU][hapmap]
rs16872481	1.00[CEU][hapmap]
rs17155207	1.00[CEU][hapmap]
rs17155253	1.00[CEU][hapmap]
rs17155280	1.00[CEU][hapmap]
rs17155301	1.00[CEU][hapmap]
rs17155316	1.00[CEU][hapmap]
rs17155345	1.00[CEU][hapmap]
rs17155362	1.00[CEU][hapmap]
rs17155369	1.00[CEU][hapmap]
rs2272618	1.00[CEU][hapmap]
rs2284279	1.00[CEU][hapmap]
rs2284280	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2284281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2284283	1.00[ASN][1000 genomes]
rs2299988	1.00[CEU][hapmap]
rs2299989	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299998	1.00[CEU][hapmap]
rs2300008	1.00[CEU][hapmap]
rs2300010	1.00[CEU][hapmap]
rs2300011	1.00[CEU][hapmap]
rs3750140	1.00[CEU][hapmap]
rs3753152	1.00[CEU][hapmap]
rs377558	0.86[ASN][1000 genomes]
rs3801929	1.00[CEU][hapmap]
rs381828	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs383691	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs388121	0.93[ASN][1000 genomes]
rs390161	0.93[ASN][1000 genomes]
rs392823	0.83[ASN][1000 genomes]
rs394145	1.00[CHB][hapmap];0.93[JPT][hapmap];0.99[ASN][1000 genomes]
rs405046	0.80[ASN][1000 genomes]
rs408766	0.86[ASN][1000 genomes]
rs409724	0.90[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs409797	0.90[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs409969	0.90[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs411444	0.91[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs427615	0.93[ASN][1000 genomes]
rs432422	0.93[ASN][1000 genomes]
rs439587	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs441468	1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs443552	0.87[ASN][1000 genomes]
rs445372	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs449514	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4727700	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4730291	0.82[ASN][1000 genomes]
rs6956041	1.00[CEU][hapmap]
rs6956711	1.00[CEU][hapmap]
rs6966259	1.00[CEU][hapmap]
rs6978117	1.00[CEU][hapmap]
rs7777092	1.00[CEU][hapmap]
rs7777322	1.00[CEU][hapmap]
rs7783944	1.00[CEU][hapmap]
rs7784319	1.00[CEU][hapmap]
rs7784353	1.00[CEU][hapmap]
rs7785181	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv831089	chr7:107687618-107877240	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv888941	chr7:107796150-107863395	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107786800-107811800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:107786800-107818400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:107786800-107819000	Weak transcription	Brain Angular Gyrus	brain
4	chr7:107786800-107857800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:107787000-107818800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:107787600-107818800	Weak transcription	Brain Anterior Caudate	brain
7	chr7:107787800-107844200	Weak transcription	Brain Germinal Matrix	brain
8	chr7:107790400-107816800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:107791000-107824600	Weak transcription	HUVEC	blood vessel
10	chr7:107799200-107808200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:107800200-107815200	Weak transcription	A549	lung
12	chr7:107805800-107818800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:107807800-107808200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:107807800-107808200	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr7:107807800-107808400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:107807800-107808400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:107807800-107808400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:107807800-107808400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:107807800-107808400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:107807800-107808400	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr7:107807800-107808400	Active TSS	NHDF-Ad	bronchial
22	chr7:107807800-107808400	Active TSS	Osteobl	bone
23	chr7:107807800-107808600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:107807800-107808600	Active TSS	Stomach Smooth Muscle	stomach
25	chr7:107807800-107808600	Active TSS	NHLF	lung

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