Variant report

Variant	rs11754247
Chromosome Location	chr6:37889157-37889158
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37867448..37869643-chr6:37887668..37889578,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1041037	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11751706	0.85[EUR][1000 genomes]
rs11752567	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11752650	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11752692	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11752863	0.85[EUR][1000 genomes]
rs11753118	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11753267	0.85[EUR][1000 genomes]
rs11754248	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11754590	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11755559	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11756030	0.85[EUR][1000 genomes]
rs11757359	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11758035	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11759475	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11759486	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11759574	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11759721	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55811006	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55837436	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56106114	0.85[EUR][1000 genomes]
rs56159928	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57040650	0.85[EUR][1000 genomes]
rs57269218	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57591988	0.83[EUR][1000 genomes]
rs73417491	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73417502	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73419414	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73419417	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73419418	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73419422	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73419436	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73419447	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73419451	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73419457	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73419461	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73419465	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73419475	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73419487	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73421427	0.85[EUR][1000 genomes]
rs73421433	0.85[EUR][1000 genomes]
rs73421436	0.85[EUR][1000 genomes]
rs73421439	0.85[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	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	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
7	nsv970036	chr6:37876765-37894762	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37850600-37890400	Weak transcription	Primary B cells from cord blood	blood
2	chr6:37857600-37895400	Weak transcription	Pancreas	Pancrea
3	chr6:37872000-37890400	Weak transcription	Small Intestine	intestine
4	chr6:37872600-37896400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr6:37873400-37929200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:37874600-37903800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr6:37876600-37903200	Weak transcription	Dnd41	blood
8	chr6:37878800-37900400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:37879600-37889600	Weak transcription	K562	blood
10	chr6:37879800-37890400	Weak transcription	GM12878-XiMat	blood
11	chr6:37880000-37889600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:37880000-37890800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr6:37880000-37892200	Weak transcription	Ovary	ovary
14	chr6:37880000-37896600	Weak transcription	Right Ventricle	heart
15	chr6:37880000-37898000	Weak transcription	Fetal Thymus	thymus
16	chr6:37880200-37930000	Weak transcription	Thymus	Thymus
17	chr6:37880400-37889200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr6:37881200-37890200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr6:37881400-37895000	Weak transcription	Left Ventricle	heart
20	chr6:37881400-37896000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr6:37882400-37891800	Weak transcription	Lung	lung
22	chr6:37883600-37890800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr6:37884600-37904800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:37884800-37891400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr6:37884800-37891400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:37884800-37895400	Weak transcription	Adipose Nuclei	Adipose
27	chr6:37884800-37898200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr6:37884800-37917000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr6:37885200-37892000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:37885200-37906200	Weak transcription	HSMM	muscle
31	chr6:37885600-37896800	Weak transcription	Fetal Brain Male	brain
32	chr6:37886000-37890400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr6:37886400-37896400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr6:37886600-37896600	Weak transcription	Fetal Intestine Small	intestine
35	chr6:37887000-37889400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:37887200-37889200	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr6:37887400-37889200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr6:37887400-37889200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr6:37887400-37889200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr6:37887400-37889200	Enhancers	HepG2	liver
41	chr6:37887600-37889200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:37887600-37889200	Enhancers	Brain Substantia Nigra	brain
43	chr6:37887600-37891400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:37887600-37933200	Weak transcription	NHDF-Ad	bronchial
45	chr6:37887800-37892200	Weak transcription	Spleen	Spleen
46	chr6:37887800-37896400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:37887800-37906200	Weak transcription	HSMMtube	muscle
48	chr6:37887800-37906600	Weak transcription	NH-A	brain
49	chr6:37888200-37889200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr6:37888200-37889200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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