Variant report

Variant	rs6549
Chromosome Location	chr8:62537309-62537310
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	chr8:62535805..62538414-chr8:62539404..62541554,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10090651	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10098691	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10099866	0.92[EUR][1000 genomes]
rs10111006	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11986004	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11992990	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13250696	1.00[YRI][hapmap]
rs13255699	0.90[EUR][1000 genomes]
rs16927652	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16927767	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[EUR][1000 genomes]
rs17205360	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17789756	0.87[YRI][hapmap]
rs17793991	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2350917	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2350925	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2882536	0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[EUR][1000 genomes]
rs35337652	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35550451	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35683980	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4272369	0.85[CEU][hapmap]
rs4354302	0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4377960	0.84[CEU][hapmap]
rs4446731	0.93[EUR][1000 genomes]
rs4515541	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4633055	0.96[CEU][hapmap];0.86[CHB][hapmap];0.97[GIH][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes]
rs6471968	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67189750	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6984286	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs6985520	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.93[EUR][1000 genomes]
rs6990099	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7009611	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7015043	0.92[CEU][hapmap];0.86[CHB][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.93[EUR][1000 genomes]
rs7813834	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7830237	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7840731	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7842421	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1032489	chr8:62450784-62555994	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv539635	chr8:62450784-62555994	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv890950	chr8:62517963-62617027	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62468600-62549000	Weak transcription	Right Ventricle	heart
2	chr8:62506600-62541400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:62508800-62549800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr8:62511400-62567800	Weak transcription	Stomach Mucosa	stomach
5	chr8:62513000-62550200	Weak transcription	Brain Substantia Nigra	brain
6	chr8:62513000-62594800	Weak transcription	Brain Anterior Caudate	brain
7	chr8:62515200-62538400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr8:62518000-62544000	Weak transcription	Fetal Lung	lung
9	chr8:62518000-62597600	Weak transcription	Small Intestine	intestine
10	chr8:62519000-62541000	Weak transcription	Primary T cells from cord blood	blood
11	chr8:62519600-62549000	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:62520200-62541000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:62522000-62541000	Weak transcription	Ovary	ovary
14	chr8:62522000-62543400	Weak transcription	Spleen	Spleen
15	chr8:62522000-62544000	Weak transcription	Esophagus	oesophagus
16	chr8:62522200-62548800	Weak transcription	Placenta	Placenta
17	chr8:62522800-62541600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:62523400-62549000	Weak transcription	Colonic Mucosa	Colon
19	chr8:62523600-62538000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:62523600-62548800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr8:62523800-62541000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:62524600-62541200	Weak transcription	Psoas Muscle	Psoas
23	chr8:62525800-62537600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:62526200-62541200	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:62526400-62552200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:62526600-62537400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr8:62526600-62549000	Weak transcription	Fetal Intestine Small	intestine
28	chr8:62527400-62541800	Weak transcription	NHEK	skin
29	chr8:62527800-62548800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr8:62528000-62549800	Weak transcription	Brain Angular Gyrus	brain
31	chr8:62529600-62541000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr8:62529600-62544200	Weak transcription	Lung	lung
33	chr8:62529800-62537800	Weak transcription	HepG2	liver
34	chr8:62529800-62540800	Weak transcription	Fetal Stomach	stomach
35	chr8:62529800-62541400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr8:62529800-62543400	Weak transcription	Gastric	stomach
37	chr8:62530000-62537800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr8:62530000-62538200	Weak transcription	HMEC	breast
39	chr8:62530000-62538600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:62530000-62540200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr8:62530000-62541000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr8:62530000-62552600	Weak transcription	Fetal Intestine Large	intestine
43	chr8:62530200-62541600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:62530200-62542400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr8:62530200-62543800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:62530200-62550000	Weak transcription	Colon Smooth Muscle	Colon
47	chr8:62530800-62539600	Weak transcription	K562	blood
48	chr8:62531600-62539000	Strong transcription	Adipose Nuclei	Adipose
49	chr8:62532000-62558800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:62532200-62555600	Strong transcription	Muscle Satellite Cultured Cells	--

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