Variant report

Variant	rs3808115
Chromosome Location	chr7:127293963-127293964
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NRF1	chr7:127291536-127294324	SK-N-SH	brain:	n/a	chr7:127292203-127292212 chr7:127292201-127292212 chr7:127292201-127292215
2	POLR2A	chr7:127293502-127294086	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr7:127293720-127294792	GM12878	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127222868..127230871-chr7:127290370..127294912,16	K562	blood:
2	chr7:127292643..127294147-chr7:127310003..127312142,2	MCF-7	breast:
3	chr7:127292385..127294984-chr7:127328196..127329892,2	K562	blood:
4	chr7:127291173..127294029-chr7:127587944..127590935,2	MCF-7	breast:
5	chr7:127223375..127232960-chr7:127286940..127295803,24	K562	blood:
6	chr7:127029920..127034279-chr7:127291168..127294285,4	MCF-7	breast:
7	chr7:127029926..127034103-chr7:127290516..127296284,10	K562	blood:
8	chr7:127292635..127294692-chr7:127327406..127330053,2	MCF-7	breast:
9	chr7:127028627..127034604-chr7:127290902..127294330,10	K562	blood:
10	chr7:127292301..127294616-chr7:127313829..127315529,2	MCF-7	breast:
11	chr7:127232880..127234701-chr7:127291672..127293969,3	K562	blood:
12	chr7:127293455..127295442-chr7:127314786..127317703,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000240790	TF binding region
ENSG00000197157	Chromatin interaction
ENSG00000179562	Chromatin interaction
ENSG00000106328	Chromatin interaction
ENSG00000004059	Chromatin interaction
ENSG00000048405	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10487494	1.00[JPT][hapmap]
rs10487496	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12536698	1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12706803	0.86[ASN][1000 genomes]
rs13227138	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13235029	0.86[ASN][1000 genomes]
rs13235596	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13244426	1.00[JPT][hapmap]
rs1419408	1.00[JPT][hapmap]
rs17660187	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17662800	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17663644	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17718364	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17730185	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17730294	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2272374	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34121113	0.86[ASN][1000 genomes]
rs34188289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34195583	0.86[ASN][1000 genomes]
rs34599926	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs34814259	0.86[ASN][1000 genomes]
rs34844752	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34980225	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35120956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35144279	0.86[ASN][1000 genomes]
rs35246122	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35307919	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35421080	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35521470	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs35640048	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35872516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36043097	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs36046498	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3752619	1.00[JPT][hapmap]
rs3757785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808090	0.84[AMR][1000 genomes]
rs3808096	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3808111	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58341788	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58451280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62481380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62481384	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62481393	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6957054	0.86[ASN][1000 genomes]
rs737242	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs746238	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7808161	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7811506	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];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	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1031658	chr7:127266882-127376775	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127290800-127294000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:127290800-127294000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr7:127291000-127294200	Active TSS	H1 Cell Line	embryonic stem cell
4	chr7:127291200-127294000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:127291200-127294400	Active TSS	Pancreas	Pancrea
6	chr7:127291200-127294600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:127291200-127294600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr7:127291400-127294000	Active TSS	HSMMtube	muscle
9	chr7:127291400-127294400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:127291400-127294800	Active TSS	NHLF	lung
11	chr7:127291600-127294000	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr7:127291600-127294000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr7:127291600-127294800	Active TSS	Placenta	Placenta
14	chr7:127292000-127294200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:127292800-127294000	Flanking Active TSS	Dnd41	blood
16	chr7:127292800-127294400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:127292800-127296200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:127293000-127294200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:127293000-127294200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr7:127293000-127294600	Flanking Active TSS	HUVEC	blood vessel
21	chr7:127293000-127295000	Flanking Active TSS	Liver	Liver
22	chr7:127293000-127296200	Enhancers	Fetal Heart	heart
23	chr7:127293000-127296400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr7:127293000-127304000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:127293200-127294000	Enhancers	Brain Cingulate Gyrus	brain
26	chr7:127293200-127294200	Enhancers	Brain Germinal Matrix	brain
27	chr7:127293200-127294400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:127293200-127294400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:127293200-127294400	Weak transcription	Esophagus	oesophagus
30	chr7:127293200-127294400	Enhancers	Fetal Brain Male	brain
31	chr7:127293200-127294400	Weak transcription	Gastric	stomach
32	chr7:127293200-127294400	Weak transcription	Lung	lung
33	chr7:127293200-127294400	Weak transcription	Spleen	Spleen
34	chr7:127293200-127294800	Enhancers	Fetal Kidney	kidney
35	chr7:127293200-127294800	Enhancers	Placenta Amnion	Placenta Amnion
36	chr7:127293200-127295000	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr7:127293200-127295000	Enhancers	Primary T cells fromperipheralblood	blood
38	chr7:127293200-127295000	Enhancers	Brain Substantia Nigra	brain
39	chr7:127293200-127295000	Enhancers	Fetal Lung	lung
40	chr7:127293200-127295000	Enhancers	Fetal Thymus	thymus
41	chr7:127293200-127295000	Enhancers	Rectal Smooth Muscle	rectum
42	chr7:127293200-127295200	Enhancers	Primary B cells from cord blood	blood
43	chr7:127293200-127295200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr7:127293200-127295200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:127293200-127295200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr7:127293200-127295400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:127293200-127295400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:127293200-127295400	Enhancers	Thymus	Thymus
49	chr7:127293200-127295600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr7:127293200-127295600	Enhancers	Brain Anterior Caudate	brain

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