Variant report

Variant	rs2284279
Chromosome Location	chr7:107798240-107798241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10224607	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10257555	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10464622	1.00[CEU][hapmap]
rs10464628	1.00[CEU][hapmap]
rs11983886	0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs12531903	1.00[CEU][hapmap]
rs12669568	1.00[CEU][hapmap]
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]
rs2284281	1.00[CEU][hapmap]
rs2299988	1.00[CEU][hapmap];0.83[ASN][1000 genomes]
rs2299991	0.83[ASN][1000 genomes]
rs2299998	1.00[CEU][hapmap]
rs2300008	1.00[CEU][hapmap]
rs2300010	1.00[CEU][hapmap]
rs2300011	1.00[CEU][hapmap]
rs369800	0.81[JPT][hapmap]
rs3750140	1.00[CEU][hapmap]
rs3753152	1.00[CEU][hapmap]
rs3801929	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs381318	0.81[JPT][hapmap]
rs391210	0.90[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs396136	0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs404287	0.81[JPT][hapmap]
rs404453	0.81[JPT][hapmap]
rs60368937	0.80[ASN][1000 genomes]
rs61079379	0.83[ASN][1000 genomes]
rs6956041	1.00[CEU][hapmap]
rs6956711	1.00[CEU][hapmap]
rs6958498	0.81[JPT][hapmap]
rs6966259	1.00[CEU][hapmap]
rs6978117	1.00[CEU][hapmap]
rs73197637	0.85[ASN][1000 genomes]
rs73197646	0.83[ASN][1000 genomes]
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]
rs7795932	0.82[ASN][1000 genomes]

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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107786800-107805600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:107786800-107811800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr7:107786800-107818400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:107786800-107819000	Weak transcription	Brain Angular Gyrus	brain
5	chr7:107786800-107857800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:107787000-107818800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:107787600-107799600	Weak transcription	Placenta	Placenta
8	chr7:107787600-107799800	Weak transcription	Fetal Brain Female	brain
9	chr7:107787600-107818800	Weak transcription	Brain Anterior Caudate	brain
10	chr7:107787800-107800400	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:107787800-107807800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:107787800-107844200	Weak transcription	Brain Germinal Matrix	brain
13	chr7:107788000-107798400	Weak transcription	Fetal Intestine Large	intestine
14	chr7:107790400-107816800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:107791000-107824600	Weak transcription	HUVEC	blood vessel
16	chr7:107795200-107800000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:107796600-107799400	Strong transcription	A549	lung
18	chr7:107797600-107799800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:107797800-107798400	Enhancers	GM12878-XiMat	blood
20	chr7:107797800-107798600	Enhancers	Fetal Intestine Small	intestine
21	chr7:107797800-107800000	Enhancers	Hela-S3	cervix
22	chr7:107797800-107800000	Enhancers	NHEK	skin
23	chr7:107798000-107798600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:107798000-107798600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:107798000-107799200	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:107798000-107799600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:107798000-107799800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:107798000-107801000	Enhancers	Duodenum Mucosa	Duodenum
29	chr7:107798200-107800000	Enhancers	HMEC	breast

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