Variant report

Variant	rs7004391
Chromosome Location	chr8:68160975-68160976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10091514	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10100536	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11986053	1.00[JPT][hapmap]
rs11986982	1.00[JPT][hapmap]
rs11997404	1.00[JPT][hapmap]
rs1378999	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16919053	1.00[JPT][hapmap]
rs16933160	1.00[JPT][hapmap]
rs16933162	1.00[JPT][hapmap]
rs16933170	1.00[JPT][hapmap]
rs16933173	1.00[JPT][hapmap]
rs16933182	1.00[JPT][hapmap]
rs16933190	1.00[JPT][hapmap]
rs16933204	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16933259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933277	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17842082	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1808140	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290585	1.00[JPT][hapmap]
rs2290586	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290587	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305672	1.00[JPT][hapmap]
rs2305673	1.00[JPT][hapmap]
rs28502563	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4364616	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58904549	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61403252	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6984568	1.00[JPT][hapmap]
rs6984597	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6986871	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988019	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6988547	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990298	1.00[JPT][hapmap]
rs6990696	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991974	1.00[JPT][hapmap]
rs6998170	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs7000650	0.87[EUR][1000 genomes]
rs7003018	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs7005014	0.87[EUR][1000 genomes]
rs7008877	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009678	1.00[JPT][hapmap]
rs7018327	0.87[EUR][1000 genomes]
rs7461383	1.00[JPT][hapmap]
rs7812859	1.00[ASW][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828748	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7833956	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs7834516	1.00[JPT][hapmap]
rs7841884	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3480493	chr8:68156374-68162214	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
2	esv3480494	chr8:68156374-68162214	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv10673	chr8:68156838-68161788	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv1806262	chr8:68158038-68161638	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv1810143	chr8:68158038-68161638	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv1812418	chr8:68158038-68161638	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv1812817	chr8:68158038-68161638	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68104600-68193000	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr8:68104600-68215600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr8:68104800-68182400	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr8:68105000-68184400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr8:68113000-68172600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:68135200-68184400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:68139000-68178000	Weak transcription	Small Intestine	intestine
8	chr8:68139600-68161400	Weak transcription	Fetal Brain Male	brain
9	chr8:68139800-68162200	Weak transcription	A549	lung
10	chr8:68146000-68168200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:68149600-68167200	Weak transcription	Fetal Heart	heart
12	chr8:68149800-68173000	Weak transcription	Psoas Muscle	Psoas
13	chr8:68150600-68161600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:68151200-68161000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:68151200-68161000	Weak transcription	HSMM	muscle
16	chr8:68151200-68161000	Weak transcription	NH-A	brain
17	chr8:68153600-68181000	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr8:68153800-68168400	Strong transcription	Fetal Thymus	thymus
19	chr8:68154000-68170800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:68154800-68162000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:68154800-68175600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:68155000-68161200	Weak transcription	GM12878-XiMat	blood
23	chr8:68155000-68179200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:68155200-68162200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:68155200-68172400	Weak transcription	Stomach Mucosa	stomach
26	chr8:68155200-68173600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:68155400-68161400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr8:68155400-68161600	Weak transcription	Brain Substantia Nigra	brain
29	chr8:68155400-68161600	Weak transcription	Left Ventricle	heart
30	chr8:68155400-68162000	Weak transcription	Pancreas	Pancrea
31	chr8:68155400-68162200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:68155400-68167400	Weak transcription	Brain Angular Gyrus	brain
33	chr8:68155600-68161000	Weak transcription	Osteobl	bone
34	chr8:68155600-68161200	Weak transcription	Colonic Mucosa	Colon
35	chr8:68155600-68161200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr8:68155600-68161600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:68155600-68173200	Weak transcription	Esophagus	oesophagus
38	chr8:68155600-68175400	Weak transcription	Aorta	Aorta
39	chr8:68155600-68175400	Weak transcription	Hela-S3	cervix
40	chr8:68155600-68193800	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr8:68155800-68161400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr8:68155800-68161600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr8:68155800-68162000	Weak transcription	Brain Anterior Caudate	brain
44	chr8:68155800-68162000	Weak transcription	Gastric	stomach
45	chr8:68155800-68162200	Weak transcription	Colon Smooth Muscle	Colon
46	chr8:68155800-68162400	Weak transcription	NHLF	lung
47	chr8:68155800-68226000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr8:68156000-68161400	Weak transcription	Thymus	Thymus
49	chr8:68156000-68161600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr8:68156000-68161600	Weak transcription	Rectal Smooth Muscle	rectum

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