Variant report

Variant	rs6684236
Chromosome Location	chr1:210003489-210003490
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210002486..210004655-chr1:210015863..210018980,3	K562	blood:
2	chr1:210001362..210003899-chr1:210005802..210009709,4	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11119354	0.90[YRI][hapmap]
rs11806020	1.00[EUR][1000 genomes]
rs17015326	0.81[ASW][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56655983	1.00[EUR][1000 genomes]
rs57139400	1.00[EUR][1000 genomes]
rs60014300	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60079073	1.00[EUR][1000 genomes]
rs6540558	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6540562	1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6692359	1.00[EUR][1000 genomes]
rs74156256	1.00[EUR][1000 genomes]
rs74156257	1.00[EUR][1000 genomes]
rs7550222	1.00[EUR][1000 genomes]
rs846911	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210001800-210004200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:210001800-210010200	Weak transcription	Spleen	Spleen
3	chr1:210001800-210025000	Weak transcription	Stomach Mucosa	stomach
4	chr1:210001800-210034000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:210002000-210003600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:210002000-210003600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:210002000-210003600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:210002000-210003600	Enhancers	Liver	Liver
9	chr1:210002000-210003800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:210002000-210004000	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:210002000-210004000	Weak transcription	Fetal Thymus	thymus
12	chr1:210002000-210004200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:210002000-210004200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:210002000-210004200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:210002000-210004200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:210002000-210004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:210002000-210004200	Weak transcription	Brain Anterior Caudate	brain
18	chr1:210002000-210004200	Weak transcription	Fetal Lung	lung
19	chr1:210002000-210004200	Weak transcription	Pancreas	Pancrea
20	chr1:210002000-210004200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:210002000-210004200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:210002000-210004800	Weak transcription	Aorta	Aorta
23	chr1:210002000-210006000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:210002000-210006000	Weak transcription	Gastric	stomach
25	chr1:210002000-210006200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:210002000-210006400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:210002000-210006600	Weak transcription	Esophagus	oesophagus
28	chr1:210002000-210006600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr1:210002000-210007000	Weak transcription	Colonic Mucosa	Colon
30	chr1:210002000-210007000	Weak transcription	Thymus	Thymus
31	chr1:210002000-210007200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:210002000-210011200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr1:210002000-210015600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:210002000-210023800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:210002200-210003600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr1:210002200-210003800	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr1:210002200-210004200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr1:210002200-210004200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:210002200-210005600	Weak transcription	Fetal Intestine Small	intestine
40	chr1:210002200-210006600	Weak transcription	Right Ventricle	heart
41	chr1:210002400-210003600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:210002400-210003800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:210002400-210003800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr1:210002400-210003800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr1:210002400-210003800	Enhancers	Brain Germinal Matrix	brain
46	chr1:210002400-210004000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:210002400-210004200	Weak transcription	Fetal Muscle Leg	muscle
48	chr1:210002400-210004200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr1:210002400-210004600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:210002400-210032000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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