Variant report

Variant	rs6725661
Chromosome Location	chr2:153362065-153362066
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	chr2:153356042..153358232-chr2:153361273..153362931,2	K562	blood:
2	chr2:153361979..153364845-chr2:153366999..153370828,3	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10173899	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10179418	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs10180542	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10194603	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10208776	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10432493	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12616906	0.83[ASN][1000 genomes]
rs12693378	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13390698	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs13424038	0.87[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13427076	0.94[JPT][hapmap]
rs13427990	0.81[ASN][1000 genomes]
rs16831169	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16831174	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2078444	0.81[ASN][1000 genomes]
rs2346205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346209	0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2881339	0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4143274	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4146259	0.94[JPT][hapmap]
rs4664587	0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4664589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664590	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58121347	0.94[ASN][1000 genomes]
rs59965317	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6434059	1.00[JPT][hapmap]
rs6434060	0.81[ASN][1000 genomes]
rs6434061	0.83[ASN][1000 genomes]
rs6434062	0.81[ASN][1000 genomes]
rs6737699	0.87[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs6747765	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs6748954	0.87[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs73002264	0.84[ASN][1000 genomes]
rs73968029	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7559217	0.81[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7582984	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7586195	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7587794	0.87[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7590207	0.83[ASN][1000 genomes]
rs7592283	0.82[ASN][1000 genomes]
rs7593411	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7594969	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7606592	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2754362	chr2:153297577-153366129	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153348800-153370200	Weak transcription	Aorta	Aorta
2	chr2:153354600-153364600	Weak transcription	Left Ventricle	heart
3	chr2:153354600-153365200	Weak transcription	Pancreas	Pancrea
4	chr2:153355600-153362400	Enhancers	Fetal Brain Male	brain
5	chr2:153356000-153364600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:153356400-153363000	Weak transcription	Small Intestine	intestine
7	chr2:153356800-153364600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:153356800-153365000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:153357000-153364800	Weak transcription	Fetal Lung	lung
10	chr2:153357200-153365000	Weak transcription	Fetal Stomach	stomach
11	chr2:153357400-153364600	Weak transcription	Psoas Muscle	Psoas
12	chr2:153357400-153375200	Weak transcription	Right Atrium	heart
13	chr2:153357600-153365000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:153357600-153365200	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:153358200-153364600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:153358200-153365000	Weak transcription	Fetal Brain Female	brain
17	chr2:153358600-153362200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:153359600-153363000	Enhancers	NHEK	skin
19	chr2:153359600-153364200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:153360000-153363200	Weak transcription	Fetal Kidney	kidney
21	chr2:153360400-153362200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:153360400-153362400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:153360400-153363400	Weak transcription	HepG2	liver
24	chr2:153360400-153365000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:153360600-153364200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:153360800-153365600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:153361000-153362200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:153361000-153362400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:153361000-153362400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr2:153361000-153362400	Enhancers	HSMMtube	muscle
31	chr2:153361000-153362600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr2:153361000-153364600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:153361000-153365600	Enhancers	Osteobl	bone
34	chr2:153361000-153365800	Enhancers	NH-A	brain
35	chr2:153361000-153398600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:153361200-153362200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr2:153361200-153362200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:153361200-153362200	Enhancers	Brain Substantia Nigra	brain
39	chr2:153361200-153362600	Enhancers	Adipose Nuclei	Adipose
40	chr2:153361200-153362800	Enhancers	Brain Angular Gyrus	brain
41	chr2:153361200-153363400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:153361200-153363400	Enhancers	Hela-S3	cervix
43	chr2:153361200-153365400	Flanking Active TSS	A549	lung
44	chr2:153361200-153365600	Enhancers	HMEC	breast
45	chr2:153361200-153365600	Enhancers	HUVEC	blood vessel
46	chr2:153361200-153365800	Enhancers	Brain Hippocampus Middle	brain
47	chr2:153361400-153362400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:153361400-153364000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:153361400-153364400	Weak transcription	NHLF	lung
50	chr2:153361600-153363400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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