Variant report

Variant	rs12056296
Chromosome Location	chr7:102568624-102568625
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102568377..102571452-chr7:102572931..102576116,3	K562	blood:

Variant related genes	Relation type
ENSG00000128606	Chromatin interaction
ENSG00000161040	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10257543	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10267275	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10273725	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10435335	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10487283	0.96[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes]
rs10499952	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1057066	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1100044	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11543736	0.93[EUR][1000 genomes]
rs11970869	0.97[EUR][1000 genomes]
rs11972019	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11972644	0.91[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes]
rs11973870	0.94[EUR][1000 genomes]
rs11978670	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes]
rs11978768	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes]
rs11978799	0.85[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11980643	0.90[EUR][1000 genomes]
rs11983456	0.96[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes]
rs11983521	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes]
rs12532495	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12533386	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12538955	0.80[EUR][1000 genomes]
rs12540384	0.97[EUR][1000 genomes]
rs12666764	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes]
rs12667218	0.94[EUR][1000 genomes]
rs12669668	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes]
rs12671803	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13242493	0.93[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17136090	0.81[EUR][1000 genomes]
rs17136137	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2009503	0.92[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2159022	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2190673	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2228686	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2411056	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2411059	0.97[EUR][1000 genomes]
rs35479298	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3779029	0.94[EUR][1000 genomes]
rs41501847	0.85[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4296965	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56894117	0.94[EUR][1000 genomes]
rs56921864	0.97[EUR][1000 genomes]
rs57350619	0.94[EUR][1000 genomes]
rs57368671	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57545514	0.97[EUR][1000 genomes]
rs57616389	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57776797	0.94[EUR][1000 genomes]
rs58191643	0.97[EUR][1000 genomes]
rs58680618	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58814323	0.82[EUR][1000 genomes]
rs58919995	0.80[EUR][1000 genomes]
rs59278165	0.97[EUR][1000 genomes]
rs59544295	0.81[EUR][1000 genomes]
rs59709436	0.81[EUR][1000 genomes]
rs60524601	0.94[EUR][1000 genomes]
rs60599650	0.94[EUR][1000 genomes]
rs61679881	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6465877	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6465878	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6465879	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6465882	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6465885	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6942855	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6945369	0.96[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes]
rs6947403	0.93[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6949150	0.81[CHB][hapmap];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6951288	0.96[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs6953980	0.85[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6956781	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6957434	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6957771	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6967389	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes]
rs6968713	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6973081	0.85[AFR][1000 genomes]
rs6975451	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6976005	0.94[EUR][1000 genomes]
rs6977145	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73406284	0.97[EUR][1000 genomes]
rs73406302	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73408204	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs73408241	0.80[AMR][1000 genomes]
rs73408250	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7779145	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7779618	0.96[CHB][hapmap];0.95[JPT][hapmap];0.83[AFR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7780405	0.85[CEU][hapmap]
rs7796335	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7804322	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs847646	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs847647	0.93[CEU][hapmap]
rs847652	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs847656	0.93[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs847658	0.93[CEU][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs865865	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs955992	0.86[CEU][hapmap]
rs9690210	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv608058	chr7:102466741-102571713	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv464667	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv608060	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102517200-102578200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:102565200-102569200	Enhancers	Fetal Lung	lung
3	chr7:102565800-102569800	Genic enhancers	HSMM	muscle
4	chr7:102566200-102568800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:102566600-102568800	Enhancers	Brain Germinal Matrix	brain
6	chr7:102566600-102569400	Weak transcription	Psoas Muscle	Psoas
7	chr7:102566800-102568800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:102566800-102573000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:102567200-102573200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:102567600-102573000	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:102567600-102573600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:102567600-102574000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:102567800-102573800	Weak transcription	NHLF	lung
14	chr7:102568000-102571800	Weak transcription	Fetal Kidney	kidney
15	chr7:102568000-102573200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:102568200-102571600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:102568200-102572000	Strong transcription	K562	blood
18	chr7:102568200-102573000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:102568200-102573000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:102568200-102573600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:102568400-102569000	Strong transcription	NH-A	brain
22	chr7:102568400-102573000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:102568400-102573000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:102568400-102573800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:102568600-102568800	Enhancers	Aorta	Aorta
26	chr7:102568600-102570400	Weak transcription	HSMMtube	muscle
27	chr7:102568600-102570600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:102568600-102570600	Weak transcription	Ovary	ovary
29	chr7:102568600-102571400	Weak transcription	Fetal Stomach	stomach
30	chr7:102568600-102572600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:102568600-102573000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr7:102568600-102573000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:102568600-102573200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr7:102568600-102573400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr7:102568600-102573800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:102568600-102573800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:102568600-102574600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:102568600-102574600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr7:102568600-102574800	Weak transcription	Osteobl	bone

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