Variant report

Variant	rs2272261
Chromosome Location	chr7:112757945-112757946
allele	A/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	chr7:112725230..112728019-chr7:112757874..112760567,2	K562	blood:
4	chr7:112716768..112718529-chr7:112755627..112758248,2	K562	blood:
5	chr7:112089330..112091829-chr7:112756736..112758677,2	K562	blood:
6	chr7:112756695..112758581-chr7:112781055..112783118,2	K562	blood:
7	chr7:112747364..112749497-chr7:112755148..112758022,3	K562	blood:

Variant related genes	Relation type
ENSG00000006652	Chromatin interaction
ENSG00000164604	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10225200	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10228219	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10232392	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10241250	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10241676	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10249359	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10252483	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10258099	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10261482	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10261563	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10261938	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs10267575	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10267803	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10270797	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10273772	1.00[ASN][1000 genomes]
rs10278104	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10278248	1.00[JPT][hapmap]
rs10500019	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12668635	0.86[ASN][1000 genomes]
rs12670138	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12670645	0.86[ASN][1000 genomes]
rs12672405	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12672763	1.00[JPT][hapmap]
rs1590155	1.00[JPT][hapmap]
rs1599792	1.00[JPT][hapmap]
rs17160251	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17160260	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2140913	1.00[JPT][hapmap]
rs2245834	1.00[JPT][hapmap]
rs2246845	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs28555529	1.00[ASN][1000 genomes]
rs28584842	0.96[ASN][1000 genomes]
rs28611230	0.96[ASN][1000 genomes]
rs28668244	1.00[ASN][1000 genomes]
rs28754698	0.86[ASN][1000 genomes]
rs55742252	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56894227	0.93[ASN][1000 genomes]
rs7787425	1.00[JPT][hapmap]
rs7791404	0.92[ASN][1000 genomes]
rs7808251	0.96[ASN][1000 genomes]
rs872944	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
11	nsv970932	chr7:112756235-112757962	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112740600-112758000	Weak transcription	Aorta	Aorta
2	chr7:112751000-112758200	Weak transcription	Lung	lung
3	chr7:112751200-112758200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:112752600-112758600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:112754200-112758200	Weak transcription	Esophagus	oesophagus
6	chr7:112754600-112758000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:112756200-112758200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr7:112756400-112758600	Weak transcription	Gastric	stomach
9	chr7:112756800-112758000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr7:112757200-112759400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr7:112757400-112758000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:112757400-112758000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr7:112757400-112758000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr7:112757400-112758000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr7:112757400-112758000	Flanking Active TSS	GM12878-XiMat	blood
16	chr7:112757400-112758000	Flanking Active TSS	HMEC	breast
17	chr7:112757400-112758000	Flanking Active TSS	NH-A	brain
18	chr7:112757400-112758000	Flanking Active TSS	NHEK	skin
19	chr7:112757400-112758200	Flanking Active TSS	Dnd41	blood
20	chr7:112757400-112759000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:112757400-112759000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:112757400-112759000	Active TSS	HSMM	muscle
23	chr7:112757400-112759200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:112757400-112759200	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr7:112757400-112759200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:112757400-112759200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:112757400-112759400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:112757400-112759400	Active TSS	NHDF-Ad	bronchial
29	chr7:112757600-112758000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr7:112757600-112758000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
31	chr7:112757600-112758000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr7:112757600-112758000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr7:112757600-112758000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:112757600-112758000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:112757600-112758000	Enhancers	Primary B cells from peripheral blood	blood
36	chr7:112757600-112758000	Enhancers	Brain Germinal Matrix	brain
37	chr7:112757600-112758000	Flanking Active TSS	Fetal Heart	heart
38	chr7:112757600-112758000	Flanking Active TSS	Fetal Kidney	kidney
39	chr7:112757600-112758000	Enhancers	Placenta Amnion	Placenta Amnion
40	chr7:112757600-112758000	Flanking Active TSS	A549	lung
41	chr7:112757600-112758000	Flanking Active TSS	NHLF	lung
42	chr7:112757600-112758200	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr7:112757600-112758200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr7:112757600-112758200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr7:112757600-112758200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:112757600-112758200	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr7:112757600-112758200	Flanking Active TSS	HUVEC	blood vessel
48	chr7:112757600-112759000	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr7:112757600-112759000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:112757600-112759000	Active TSS	Fetal Brain Female	brain

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