Variant report

Variant	rs12192182
Chromosome Location	chr6:37859226-37859227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37858734..37860389-chr6:37862492..37865486,2	MCF-7	breast:
2	chr6:37846424..37848764-chr6:37858195..37859926,2	K562	blood:
3	chr6:37854831..37859248-chr6:37860232..37864769,4	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10456096	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10456097	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10807188	0.88[EUR][1000 genomes]
rs1187422	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1187423	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12198907	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12200258	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12206818	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12211248	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12211981	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12213835	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13210701	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13214465	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13220131	0.80[EUR][1000 genomes]
rs171831	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1812599	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2132597	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2395686	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs259673	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs259684	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs259686	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs259689	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs259690	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs259691	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs259695	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs259713	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs259715	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs259716	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2645107	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2645113	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2645116	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2645120	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2645127	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2645128	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2842500	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2842517	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2842527	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2842529	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34592529	0.90[AFR][1000 genomes]
rs34871463	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35823566	0.84[ASN][1000 genomes]
rs35925070	0.90[AFR][1000 genomes]
rs56098839	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6458027	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6458028	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6458029	0.84[EUR][1000 genomes]
rs7755089	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9296232	0.89[EUR][1000 genomes]
rs9394460	0.89[EUR][1000 genomes]
rs9647619	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs966705	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[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	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1018711	chr6:37813397-37981590	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1016375	chr6:37816863-37865655	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv538204	chr6:37816863-37865655	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37836400-37861800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:37840400-37860000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr6:37840600-37861800	Weak transcription	Primary T cells from cord blood	blood
4	chr6:37841600-37862400	Weak transcription	Fetal Lung	lung
5	chr6:37846000-37865200	Weak transcription	Thymus	Thymus
6	chr6:37846400-37859600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr6:37850200-37860600	Weak transcription	GM12878-XiMat	blood
8	chr6:37850200-37861600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:37850400-37861600	Weak transcription	Fetal Stomach	stomach
10	chr6:37850400-37861800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:37850600-37865800	Weak transcription	HSMMtube	muscle
12	chr6:37850600-37869200	Weak transcription	Lung	lung
13	chr6:37850600-37890400	Weak transcription	Primary B cells from cord blood	blood
14	chr6:37850800-37865200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:37851000-37861400	Weak transcription	Fetal Intestine Small	intestine
16	chr6:37851000-37861600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:37851000-37861800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:37851000-37861800	Weak transcription	Placenta	Placenta
19	chr6:37851000-37862200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr6:37851000-37866000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:37851000-37868800	Weak transcription	Ovary	ovary
22	chr6:37851000-37869200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:37851000-37884600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:37851200-37861400	Weak transcription	Fetal Intestine Large	intestine
25	chr6:37854800-37860200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr6:37855600-37865000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:37855800-37860800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr6:37856000-37871000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:37857000-37861800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:37857000-37865200	Weak transcription	HepG2	liver
31	chr6:37857200-37859600	Weak transcription	Gastric	stomach
32	chr6:37857200-37861800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:37857200-37861800	Weak transcription	Fetal Muscle Leg	muscle
34	chr6:37857200-37865000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr6:37857200-37865000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr6:37857200-37871200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr6:37857200-37871200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:37857200-37871400	Weak transcription	Aorta	Aorta
39	chr6:37857400-37865000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:37857400-37871800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr6:37857600-37859800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr6:37857600-37862200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr6:37857600-37863400	Weak transcription	Liver	Liver
44	chr6:37857600-37863600	Weak transcription	Colon Smooth Muscle	Colon
45	chr6:37857600-37871800	Weak transcription	Right Atrium	heart
46	chr6:37857600-37871800	Weak transcription	Stomach Mucosa	stomach
47	chr6:37857600-37872200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:37857600-37886000	Weak transcription	Esophagus	oesophagus
49	chr6:37857600-37895400	Weak transcription	Pancreas	Pancrea
50	chr6:37857800-37864400	Weak transcription	NH-A	brain

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