Variant report

Variant	rs7496293
Chromosome Location	chr15:57300952-57300953
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	chr15:57208974..57212376-chr15:57299847..57301988,3	MCF-7	breast:
2	chr15:57300673..57301307-chr5:172483325..172483972,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140262	Chromatin interaction
ENSG00000137871	Chromatin interaction
ENSG00000164463	Chromatin interaction

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs10518894	0.84[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap]
rs10518895	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10518898	0.91[YRI][hapmap]
rs10518899	0.96[CEU][hapmap]
rs11071309	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs11630195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11631228	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11631541	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs11631732	0.83[AMR][1000 genomes]
rs11632069	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs11852340	0.84[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap]
rs11853331	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs11855648	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs11858471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11858783	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12050751	1.00[CEU][hapmap]
rs12437713	0.95[YRI][hapmap]
rs12898327	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12898844	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12899036	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12899187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12899915	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12900589	0.89[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs12900874	0.91[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs12900986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12901780	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12904070	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12904602	0.92[CEU][hapmap]
rs12905900	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12906042	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12906873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12906936	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12908670	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12909811	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12910094	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12912210	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12914425	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap]
rs12914625	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12916237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12916958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12917247	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13313455	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs1430823	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1628067	0.85[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs16953316	1.00[YRI][hapmap]
rs16953323	0.95[YRI][hapmap]
rs16977155	1.00[YRI][hapmap]
rs16977181	1.00[YRI][hapmap]
rs16977199	1.00[YRI][hapmap]
rs16977201	1.00[YRI][hapmap]
rs16977217	1.00[YRI][hapmap]
rs16977218	1.00[YRI][hapmap]
rs16977235	0.95[YRI][hapmap]
rs16977242	0.95[YRI][hapmap]
rs16977245	0.90[YRI][hapmap]
rs16977253	0.95[YRI][hapmap]
rs16977272	0.95[YRI][hapmap]
rs16977276	0.95[YRI][hapmap]
rs16977280	0.95[YRI][hapmap]
rs16977284	0.95[YRI][hapmap]
rs16977297	0.91[YRI][hapmap]
rs16977308	0.89[YRI][hapmap]
rs17239040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17415738	0.95[YRI][hapmap]
rs17819700	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1820995	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs2053472	0.80[ASN][1000 genomes]
rs2111891	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2116065	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2116066	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs213149	0.89[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap]
rs213164	0.80[ASN][1000 genomes]
rs2169466	0.82[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs2414490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2414491	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2464429	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs2464430	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs2470079	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs2470082	0.91[JPT][hapmap]
rs2583108	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2585082	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2585087	0.82[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2585088	0.91[JPT][hapmap]
rs2585102	0.82[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2585112	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs2615231	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs2703576	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs2703580	0.91[JPT][hapmap]
rs2733170	0.91[JPT][hapmap]
rs2733171	0.81[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2733174	0.82[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2733176	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2733181	0.91[ASN][1000 genomes]
rs2733188	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs2733332	0.81[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap]
rs2920267	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs2951899	0.81[JPT][hapmap]
rs2951901	0.91[JPT][hapmap]
rs2951903	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs2951904	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs2962990	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs2962991	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs2962992	0.85[JPT][hapmap]
rs2962993	0.82[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.84[EUR][1000 genomes]
rs34262415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35646942	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3803454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3803455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs41472450	1.00[YRI][hapmap]
rs4399497	0.81[AMR][1000 genomes]
rs4774250	0.89[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap]
rs4774898	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4774902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4774910	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap]
rs4774913	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs62022986	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62022988	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62025331	0.81[ASN][1000 genomes]
rs6493901	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap]
rs715338	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs7161965	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7170133	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7175436	0.86[JPT][hapmap]
rs7183392	0.95[YRI][hapmap]
rs745652	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs8037901	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs967514	0.84[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv542393	chr15:57115116-57341363	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 Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1052052	chr15:57232111-57344561	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv542394	chr15:57232111-57344561	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57269800-57304800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:57273000-57307200	Weak transcription	Fetal Intestine Small	intestine
3	chr15:57275400-57306200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr15:57276200-57313400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr15:57277000-57313400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:57279600-57301800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr15:57282000-57307400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr15:57282000-57315000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr15:57282200-57308400	Weak transcription	Thymus	Thymus
10	chr15:57282200-57311000	Weak transcription	K562	blood
11	chr15:57282200-57315200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr15:57282600-57306200	Weak transcription	HepG2	liver
13	chr15:57284200-57310800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr15:57286000-57306200	Weak transcription	Fetal Intestine Large	intestine
15	chr15:57286000-57307400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:57286200-57307600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr15:57286200-57307600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr15:57286200-57312000	Weak transcription	HSMM	muscle
19	chr15:57286200-57314800	Weak transcription	Dnd41	blood
20	chr15:57286400-57309400	Weak transcription	Fetal Lung	lung
21	chr15:57288800-57307400	Weak transcription	HMEC	breast
22	chr15:57289400-57304600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr15:57289400-57308000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:57289600-57315200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr15:57289600-57315600	Weak transcription	Fetal Muscle Leg	muscle
26	chr15:57289800-57315600	Weak transcription	Primary B cells from cord blood	blood
27	chr15:57294200-57307400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr15:57294400-57311600	Weak transcription	GM12878-XiMat	blood
29	chr15:57295200-57313600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:57296000-57301400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr15:57296000-57307600	Weak transcription	Brain Substantia Nigra	brain
32	chr15:57296000-57308800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr15:57296000-57308800	Weak transcription	Brain Hippocampus Middle	brain
34	chr15:57296200-57301600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr15:57296200-57302800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:57296200-57303800	Weak transcription	HUVEC	blood vessel
37	chr15:57296200-57304600	Weak transcription	Brain Anterior Caudate	brain
38	chr15:57296200-57307400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:57296200-57307600	Weak transcription	A549	lung
40	chr15:57296200-57308000	Weak transcription	NH-A	brain
41	chr15:57296400-57309400	Weak transcription	NHDF-Ad	bronchial
42	chr15:57296400-57310200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr15:57296600-57313200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:57297200-57308000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr15:57297200-57316800	Weak transcription	Fetal Stomach	stomach
46	chr15:57297800-57307200	Weak transcription	Pancreas	Pancrea
47	chr15:57298200-57307600	Weak transcription	Gastric	stomach
48	chr15:57299000-57307600	Weak transcription	Ovary	ovary
49	chr15:57299200-57316000	Weak transcription	Right Ventricle	heart
50	chr15:57299200-57317200	Weak transcription	Esophagus	oesophagus

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