Variant report

Variant	rs12215596
Chromosome Location	chr6:15308120-15308121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15307880..15309587-chr6:15317665..15320431,3	K562	blood:
2	chr6:15305494..15307025-chr6:15307899..15310326,2	K562	blood:
3	chr6:15211374..15212897-chr6:15307612..15309960,2	K562	blood:
4	chr6:15264451..15267645-chr6:15306826..15309628,3	K562	blood:
5	chr6:15303140..15305494-chr6:15308085..15310163,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10949291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10949292	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10949293	0.90[ASN][1000 genomes]
rs10949294	1.00[CHB][hapmap]
rs10949295	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs11759040	1.00[JPT][hapmap]
rs11759478	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs11759828	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11759847	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12192599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12198692	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12198694	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199895	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[ASN][1000 genomes]
rs12201889	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204124	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12205420	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12206745	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];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12209228	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12209453	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12209539	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12209748	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210592	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12211278	1.00[CHB][hapmap]
rs12212013	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12214719	0.82[EUR][1000 genomes]
rs12215740	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13192347	1.00[CHB][hapmap]
rs13194410	1.00[CHB][hapmap]
rs13205396	1.00[CHB][hapmap]
rs13205612	1.00[CHB][hapmap]
rs16876278	1.00[CHB][hapmap]
rs17575737	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs17576233	1.00[CHB][hapmap]
rs17576436	1.00[CHB][hapmap]
rs17619730	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17619838	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17637773	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs17638192	1.00[CHB][hapmap]
rs17638720	1.00[ASW][hapmap]
rs17687211	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17713010	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];0.95[ASN][1000 genomes]
rs28505073	0.89[EUR][1000 genomes]
rs55634912	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55980198	1.00[ASN][1000 genomes]
rs6902997	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6919296	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6935879	0.94[ASN][1000 genomes]
rs6938919	0.82[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72834551	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72834590	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7765425	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs794775	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027010	chr6:15201803-15425629	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1030558	chr6:15234675-15449137	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv538142	chr6:15243960-15404893	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv949448	chr6:15279490-15449441	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1025512	chr6:15291551-15452395	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv538143	chr6:15291551-15452395	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15290600-15309400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:15295800-15311400	Enhancers	Primary hematopoietic stem cells	blood
3	chr6:15300200-15308400	Weak transcription	A549	lung
4	chr6:15300200-15312400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:15300400-15312600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:15300800-15308200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr6:15300800-15308400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:15300800-15308600	Weak transcription	NHEK	skin
9	chr6:15300800-15310600	Weak transcription	HSMM	muscle
10	chr6:15301200-15312400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:15301200-15313000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr6:15301200-15313400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:15302400-15308800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:15302600-15309800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr6:15303400-15311400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr6:15303400-15311400	Enhancers	Primary B cells from peripheral blood	blood
17	chr6:15303800-15310600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:15303800-15312600	Weak transcription	Lung	lung
19	chr6:15304800-15309000	Enhancers	Primary B cells from cord blood	blood
20	chr6:15304800-15309800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr6:15305000-15308800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:15305200-15311000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr6:15305200-15313600	Weak transcription	Liver	Liver
24	chr6:15305400-15309000	Weak transcription	HepG2	liver
25	chr6:15305400-15312600	Weak transcription	Fetal Brain Male	brain
26	chr6:15305600-15308800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr6:15305600-15310600	Weak transcription	Gastric	stomach
28	chr6:15305600-15312600	Weak transcription	Fetal Brain Female	brain
29	chr6:15305800-15308800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr6:15305800-15308800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:15305800-15310000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:15305800-15310000	Weak transcription	Pancreas	Pancrea
33	chr6:15305800-15310600	Weak transcription	Esophagus	oesophagus
34	chr6:15306000-15308200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:15306000-15308400	Weak transcription	HSMMtube	muscle
36	chr6:15306000-15308600	Weak transcription	Brain Angular Gyrus	brain
37	chr6:15306000-15308800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:15306000-15309400	Enhancers	Fetal Thymus	thymus
39	chr6:15306000-15310200	Weak transcription	Right Atrium	heart
40	chr6:15306000-15311800	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr6:15306000-15318600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:15306200-15308200	Weak transcription	NH-A	brain
43	chr6:15306200-15308400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr6:15306200-15310000	Weak transcription	Stomach Mucosa	stomach
45	chr6:15306400-15308200	Weak transcription	Brain Hippocampus Middle	brain
46	chr6:15306400-15308400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:15306400-15308400	Weak transcription	Fetal Lung	lung
48	chr6:15306400-15308400	Weak transcription	Fetal Stomach	stomach
49	chr6:15306400-15308600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr6:15306400-15308600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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