Variant report

Variant	rs2462665
Chromosome Location	chr7:112758324-112758325
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112753755..112755851-chr7:112756779..112758396,2	MCF-7	breast:
2	chr7:112748064..112750116-chr7:112756047..112758575,2	MCF-7	breast:
3	chr17:79885731..79886495-chr7:112758134..112758664,2	Hela-S3	cervix:
4	chr7:112725230..112728019-chr7:112757874..112760567,2	K562	blood:
5	chr7:112089330..112091829-chr7:112756736..112758677,2	K562	blood:
6	chr7:112756695..112758581-chr7:112781055..112783118,2	K562	blood:
7	chr7:112090464..112092274-chr7:112758271..112759774,2	K562	blood:

Variant related genes	Relation type
ENSG00000265688	Chromatin interaction
ENSG00000164604	Chromatin interaction
ENSG00000006652	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1008056	0.94[ASN][1000 genomes]
rs1013638	0.89[ASN][1000 genomes]
rs10228566	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10232914	0.91[ASN][1000 genomes]
rs10241909	0.91[ASN][1000 genomes]
rs10245805	0.91[ASN][1000 genomes]
rs10246011	0.88[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10246012	0.91[ASN][1000 genomes]
rs10257270	0.96[ASN][1000 genomes]
rs10267369	0.91[ASN][1000 genomes]
rs10269536	0.89[ASN][1000 genomes]
rs10278935	0.89[ASN][1000 genomes]
rs1051878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1051997	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1575013	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1590155	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1807909	0.85[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2037657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2140913	0.85[CEU][hapmap]
rs2177800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245834	0.90[CEU][hapmap]
rs2245985	0.85[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2246723	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2246724	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2246845	0.86[YRI][hapmap]
rs2249253	0.89[ASN][1000 genomes]
rs2249501	0.85[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2249511	0.91[ASN][1000 genomes]
rs2249612	0.85[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2250343	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];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2253640	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2253773	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2254842	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2264731	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2264732	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2462664	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2692601	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2699400	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28658090	0.91[ASN][1000 genomes]
rs55822923	0.96[ASN][1000 genomes]
rs55836916	0.91[ASN][1000 genomes]
rs56182321	0.89[ASN][1000 genomes]
rs56202345	0.89[ASN][1000 genomes]
rs56311133	0.91[ASN][1000 genomes]
rs56408134	0.91[ASN][1000 genomes]
rs73198873	0.91[ASN][1000 genomes]
rs73198882	0.91[ASN][1000 genomes]
rs7803528	0.81[ASN][1000 genomes]
rs9656199	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9656200	0.85[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv3355135	chr7:112616979-113134651	Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv435847	chr7:112618576-113134022	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3430638	chr7:112620663-113134403	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3442221	chr7:112620665-113134971	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv993501	chr7:112625029-113125338	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1022066	chr7:112630168-113122748	Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv539090	chr7:112630168-113122748	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv889059	chr7:112755548-112908788	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112752600-112758600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:112756400-112758600	Weak transcription	Gastric	stomach
3	chr7:112757200-112759400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr7:112757400-112759000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:112757400-112759000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:112757400-112759000	Active TSS	HSMM	muscle
7	chr7:112757400-112759200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:112757400-112759200	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr7:112757400-112759200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:112757400-112759200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:112757400-112759400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:112757400-112759400	Active TSS	NHDF-Ad	bronchial
13	chr7:112757600-112759000	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr7:112757600-112759000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:112757600-112759000	Active TSS	Fetal Brain Female	brain
16	chr7:112757600-112759200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:112757600-112759200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:112757600-112759200	Active TSS	Left Ventricle	heart
19	chr7:112757600-112759400	Active TSS	Right Atrium	heart
20	chr7:112757600-112760000	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr7:112757800-112759000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:112757800-112759000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:112757800-112759000	Active TSS	Duodenum Mucosa	Duodenum
24	chr7:112757800-112759000	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr7:112757800-112759200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr7:112757800-112759200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:112757800-112759200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:112757800-112759200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:112757800-112759200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:112757800-112759200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr7:112757800-112759200	Active TSS	Fetal Muscle Trunk	muscle
32	chr7:112757800-112759200	Active TSS	Placenta	Placenta
33	chr7:112757800-112759200	Active TSS	Fetal Stomach	stomach
34	chr7:112757800-112759200	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr7:112757800-112759200	Active TSS	Right Ventricle	heart
36	chr7:112757800-112759200	Active TSS	Stomach Smooth Muscle	stomach
37	chr7:112757800-112759200	Active TSS	K562	blood
38	chr7:112757800-112759400	Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr7:112757800-112759400	Active TSS	Ovary	ovary
40	chr7:112757800-112759400	Active TSS	Psoas Muscle	Psoas
41	chr7:112757800-112759400	Active TSS	Rectal Smooth Muscle	rectum
42	chr7:112757800-112759600	Active TSS	HSMMtube	muscle
43	chr7:112758000-112758400	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr7:112758000-112758400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr7:112758000-112758400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:112758000-112758400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr7:112758000-112758400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr7:112758000-112758400	Flanking Active TSS	Fetal Thymus	thymus
49	chr7:112758000-112758800	Active TSS	Hela-S3	cervix
50	chr7:112758000-112758800	Active TSS	HepG2	liver

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