Variant report

Variant	rs10947037
Chromosome Location	chr6:11218166-11218167
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11209766..11214077-chr6:11214391..11221251,7	K562	blood:
2	chr6:11211001..11214077-chr6:11215727..11219130,4	K562	blood:
3	chr6:11217805..11219396-chr6:11232671..11234617,2	MCF-7	breast:
4	chr6:11210641..11214378-chr6:11216495..11219035,4	MCF-7	breast:
5	chr6:11217430..11219520-chr6:11228784..11230869,3	MCF-7	breast:
6	chr6:11215763..11222711-chr6:11227480..11234166,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111859	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10807059	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10947017	0.83[EUR][1000 genomes]
rs10947021	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10947026	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10947036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190771	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190858	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12200095	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12215491	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2327332	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3734405	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778170	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3778171	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3798737	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3798738	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4711205	0.86[AFR][1000 genomes]
rs729747	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11204200-11222400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:11207200-11218600	Strong transcription	Primary B cells from cord blood	blood
3	chr6:11207800-11218200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:11208200-11218600	Genic enhancers	HUVEC	blood vessel
5	chr6:11208600-11218200	Strong transcription	Primary B cells from peripheral blood	blood
6	chr6:11211600-11218400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:11211600-11219000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:11211600-11222200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:11211600-11229200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:11211800-11219800	Enhancers	Left Ventricle	heart
11	chr6:11211800-11229200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:11212200-11218800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:11212600-11221800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr6:11212600-11222400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr6:11213000-11222400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr6:11213000-11223600	Enhancers	Fetal Lung	lung
17	chr6:11213800-11219200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:11213800-11221800	Weak transcription	NHEK	skin
19	chr6:11213800-11222800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:11214000-11219000	Weak transcription	HMEC	breast
21	chr6:11214000-11222400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:11214200-11218200	Enhancers	Fetal Brain Male	brain
23	chr6:11214200-11218400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr6:11214200-11220000	Enhancers	Fetal Thymus	thymus
25	chr6:11214200-11224400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr6:11214400-11219600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr6:11214600-11219000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr6:11214600-11221000	Enhancers	Adipose Nuclei	Adipose
29	chr6:11214800-11219000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:11214800-11223000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:11215200-11220000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr6:11215200-11220000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr6:11215200-11220000	Enhancers	Small Intestine	intestine
34	chr6:11215400-11218400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr6:11215400-11219000	Enhancers	Brain Anterior Caudate	brain
36	chr6:11215400-11219800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:11215400-11220000	Enhancers	Rectal Smooth Muscle	rectum
38	chr6:11215400-11222600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr6:11215400-11224000	Weak transcription	HSMMtube	muscle
40	chr6:11215400-11224600	Weak transcription	Esophagus	oesophagus
41	chr6:11215400-11232000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr6:11215800-11219800	Enhancers	Thymus	Thymus
43	chr6:11216200-11218400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr6:11216200-11220000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr6:11216200-11220600	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr6:11216200-11224600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:11216200-11228800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:11216400-11219200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:11216400-11221800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:11216400-11221800	Weak transcription	Brain Germinal Matrix	brain

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