Variant report

Variant	rs12212013
Chromosome Location	chr6:15306553-15306554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15251586..15254356-chr6:15305390..15308009,2	K562	blood:
2	chr6:15305494..15307025-chr6:15307899..15310326,2	K562	blood:
3	chr6:15303539..15305242-chr6:15305641..15308012,2	K562	blood:
4	chr6:15243069..15245531-chr6:15303804..15307627,3	K562	blood:

Variant related genes	Relation type
ENSG00000271888	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10949291	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10949292	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10949293	0.90[ASN][1000 genomes]
rs10949295	0.85[AMR][1000 genomes]
rs11759828	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11759847	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12192599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12198692	0.83[ASN][1000 genomes]
rs12198694	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199895	0.90[ASN][1000 genomes]
rs12201889	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204124	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12205420	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12206745	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12209228	1.00[ASN][1000 genomes]
rs12209453	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12209539	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12209748	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210592	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12214719	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12215596	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12215740	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17575737	0.85[AMR][1000 genomes]
rs17619838	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17637773	0.85[AMR][1000 genomes]
rs17687211	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17713010	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28505073	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55634912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55980198	1.00[ASN][1000 genomes]
rs6902997	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6919296	0.94[ASN][1000 genomes]
rs6935879	0.94[ASN][1000 genomes]
rs6938919	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72834551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72834590	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7765425	1.00[ASN][1000 genomes]

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:111 , 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	chr6:15300400-15308000	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr6:15300400-15312600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:15300800-15308200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:15300800-15308400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:15300800-15308600	Weak transcription	NHEK	skin
10	chr6:15300800-15310600	Weak transcription	HSMM	muscle
11	chr6:15301000-15307600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:15301200-15312400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr6:15301200-15313000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:15301200-15313400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:15301800-15308000	Weak transcription	Fetal Kidney	kidney
16	chr6:15302400-15308800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:15302600-15309800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr6:15303400-15306600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:15303400-15306600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:15303400-15306600	Enhancers	Duodenum Mucosa	Duodenum
21	chr6:15303400-15306800	Enhancers	Small Intestine	intestine
22	chr6:15303400-15307000	Enhancers	Fetal Intestine Small	intestine
23	chr6:15303400-15311400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr6:15303400-15311400	Enhancers	Primary B cells from peripheral blood	blood
25	chr6:15303800-15307000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:15303800-15310600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr6:15303800-15312600	Weak transcription	Lung	lung
28	chr6:15304000-15307600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr6:15304600-15306600	Enhancers	Fetal Muscle Leg	muscle
30	chr6:15304800-15307800	Enhancers	Right Ventricle	heart
31	chr6:15304800-15309000	Enhancers	Primary B cells from cord blood	blood
32	chr6:15304800-15309800	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr6:15305000-15306600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr6:15305000-15308800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr6:15305200-15307200	Weak transcription	Left Ventricle	heart
36	chr6:15305200-15311000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr6:15305200-15313600	Weak transcription	Liver	Liver
38	chr6:15305400-15307000	Enhancers	Osteobl	bone
39	chr6:15305400-15307600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:15305400-15308000	Enhancers	K562	blood
41	chr6:15305400-15309000	Weak transcription	HepG2	liver
42	chr6:15305400-15312600	Weak transcription	Fetal Brain Male	brain
43	chr6:15305600-15306600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:15305600-15307400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr6:15305600-15308000	Weak transcription	Colon Smooth Muscle	Colon
46	chr6:15305600-15308800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:15305600-15310600	Weak transcription	Gastric	stomach
48	chr6:15305600-15312600	Weak transcription	Fetal Brain Female	brain
49	chr6:15305800-15307600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr6:15305800-15308800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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