Variant report

Variant	rs11970647
Chromosome Location	chr6:70503194-70503195
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:70499217..70503850-chr6:70504773..70507699,6	K562	blood:
2	chr6:70487633..70489999-chr6:70500582..70503569,2	K562	blood:
3	chr6:70501344..70503895-chr6:70504897..70508195,4	K562	blood:
4	chr6:70482716..70484360-chr6:70501673..70503639,2	K562	blood:
5	chr6:70485123..70489133-chr6:70502034..70504892,3	K562	blood:
6	chr6:70481708..70484216-chr6:70501673..70503677,2	K562	blood:
7	chr6:70503075..70505175-chr6:70505205..70507117,3	MCF-7	breast:
8	chr6:70499285..70501512-chr6:70501963..70504100,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000168216	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs11962504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11965589	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11967076	0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11967736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968161	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11969169	0.93[AMR][1000 genomes]
rs11969223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11969244	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12111306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1379454	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1457495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1457496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1563611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16867900	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16868135	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902651	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445965	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502556	1.00[ASN][1000 genomes]
rs2502557	1.00[ASN][1000 genomes]
rs2502565	0.80[ASN][1000 genomes]
rs2502566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3214020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778243	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3799097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3928194	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4457128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55823739	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56310174	1.00[ASN][1000 genomes]
rs57751010	1.00[ASN][1000 genomes]
rs57897217	0.93[AMR][1000 genomes]
rs58614233	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59256218	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59573217	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59727335	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60078953	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60480225	0.93[AMR][1000 genomes]
rs61572016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6903952	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905740	0.93[AMR][1000 genomes]
rs6912049	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920889	0.81[YRI][hapmap];0.93[AMR][1000 genomes]
rs6922658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6924226	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6924743	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73469943	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73469973	0.93[AMR][1000 genomes]
rs73471802	0.93[AMR][1000 genomes]
rs73481734	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481772	1.00[ASN][1000 genomes]
rs73485519	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485522	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485538	1.00[ASN][1000 genomes]
rs73485542	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485549	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73486009	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73486032	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73745767	0.89[ASN][1000 genomes]
rs7740306	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7747688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7750707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[ASN][1000 genomes]
rs7751578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7763293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7763931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs980587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[ASN][1000 genomes]
rs991973	1.00[CEU][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs991974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv886140	chr6:70354682-70728202	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv830682	chr6:70397851-70592883	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70453800-70505600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:70477200-70505200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:70477600-70505400	Weak transcription	NHDF-Ad	bronchial
4	chr6:70478400-70505000	Weak transcription	Fetal Brain Male	brain
5	chr6:70479800-70506200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:70480200-70506000	Weak transcription	Lung	lung
7	chr6:70481600-70505000	Weak transcription	Aorta	Aorta
8	chr6:70484200-70505200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:70487200-70505200	Weak transcription	NHLF	lung
10	chr6:70488000-70505200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:70490200-70505600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:70490400-70505400	Weak transcription	Fetal Muscle Leg	muscle
13	chr6:70490800-70503800	Weak transcription	Dnd41	blood
14	chr6:70490800-70505000	Weak transcription	Hela-S3	cervix
15	chr6:70491600-70504600	Weak transcription	HepG2	liver
16	chr6:70492800-70505000	Weak transcription	Primary T cells from cord blood	blood
17	chr6:70494000-70505400	Weak transcription	Fetal Stomach	stomach
18	chr6:70495200-70504000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr6:70495400-70506000	Weak transcription	Stomach Mucosa	stomach
20	chr6:70495800-70505400	Weak transcription	Pancreas	Pancrea
21	chr6:70496000-70505400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:70496000-70506000	Weak transcription	Gastric	stomach
23	chr6:70499000-70505200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr6:70499200-70505000	Enhancers	Liver	Liver
25	chr6:70499200-70505400	Weak transcription	HSMM	muscle
26	chr6:70499400-70505200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:70499400-70505400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr6:70499600-70503400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr6:70500000-70503400	Weak transcription	K562	blood
30	chr6:70500000-70504800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr6:70500000-70505000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr6:70500000-70505400	Weak transcription	Placenta	Placenta
33	chr6:70500000-70505800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr6:70500200-70505000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:70500400-70505400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:70500600-70503400	Enhancers	Colon Smooth Muscle	Colon
37	chr6:70500600-70504200	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr6:70500600-70504800	Enhancers	Primary B cells from cord blood	blood
39	chr6:70500600-70505400	Weak transcription	Fetal Thymus	thymus
40	chr6:70501000-70503400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:70501200-70504000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr6:70501400-70503800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr6:70501400-70504600	Weak transcription	Fetal Brain Female	brain
44	chr6:70501400-70505000	Weak transcription	Fetal Intestine Small	intestine
45	chr6:70501400-70505000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr6:70501400-70505400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:70501600-70505000	Weak transcription	Brain Germinal Matrix	brain
48	chr6:70501600-70505200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr6:70501600-70505600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr6:70501800-70504600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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