Variant report

Variant	rs8000870
Chromosome Location	chr13:80065778-80065779
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:80061240..80063310-chr13:80064486..80066624,3	K562	blood:
2	chr13:80054534..80056612-chr13:80065501..80067277,2	MCF-7	breast:
3	chr13:80063503..80065640-chr13:80065674..80068573,2	MCF-7	breast:
4	chr13:80054213..80059626-chr13:80061919..80068879,9	K562	blood:
5	chr13:80056153..80058862-chr13:80062367..80066425,4	K562	blood:

Variant related genes	Relation type
ENSG00000102471	Chromatin interaction
ENSG00000232132	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10492579	0.92[EUR][1000 genomes]
rs10507898	1.00[CEU][hapmap]
rs10507899	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1335372	0.82[EUR][1000 genomes]
rs1335373	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1335374	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1414157	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17071233	1.00[CEU][hapmap]
rs17071247	1.00[CEU][hapmap]
rs17071257	1.00[CEU][hapmap]
rs17071385	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs17071415	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs17071499	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17071532	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17071549	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17071558	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17071566	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17071574	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17071585	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17071627	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17071632	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs41288268	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56711390	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs57032852	0.92[EUR][1000 genomes]
rs57544957	0.80[EUR][1000 genomes]
rs57929179	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58056613	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58069884	0.89[EUR][1000 genomes]
rs58264675	0.82[EUR][1000 genomes]
rs58406632	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs59165380	0.82[EUR][1000 genomes]
rs59381369	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs59755477	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59773478	0.80[EUR][1000 genomes]
rs59783325	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs60126328	0.84[EUR][1000 genomes]
rs61318325	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61676417	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6563107	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs6563117	1.00[CEU][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7139902	0.82[EUR][1000 genomes]
rs7317409	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7317511	0.92[EUR][1000 genomes]
rs7318854	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7318984	0.84[EUR][1000 genomes]
rs7327148	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7329633	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7330804	0.84[EUR][1000 genomes]
rs7331979	1.00[CEU][hapmap]
rs7335191	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7338043	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73548948	0.82[EUR][1000 genomes]
rs73548951	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73548955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551558	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551595	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73551596	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73551597	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73551601	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73551602	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73553403	0.92[EUR][1000 genomes]
rs73553418	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73553424	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73553431	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73553447	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73553448	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73553473	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73553481	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs73553499	0.94[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73555409	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73555411	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73555415	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73566422	0.80[EUR][1000 genomes]
rs73566424	0.80[EUR][1000 genomes]
rs73566435	0.80[EUR][1000 genomes]
rs73566454	0.80[EUR][1000 genomes]
rs7491258	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7981574	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7984159	1.00[EUR][1000 genomes]
rs7984598	0.96[EUR][1000 genomes]
rs7985220	0.89[EUR][1000 genomes]
rs7985697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7990190	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7990464	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7992181	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs7997554	1.00[CEU][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7998452	0.92[EUR][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	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80056200-80066400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:80056200-80066600	Weak transcription	Psoas Muscle	Psoas
3	chr13:80056200-80077400	Weak transcription	Right Ventricle	heart
4	chr13:80056800-80065800	Weak transcription	Fetal Muscle Leg	muscle
5	chr13:80057000-80066200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:80058600-80065800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr13:80059000-80077200	Weak transcription	Small Intestine	intestine
8	chr13:80059400-80066400	Weak transcription	Fetal Thymus	thymus
9	chr13:80059600-80066200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:80059600-80066600	Weak transcription	Brain Angular Gyrus	brain
11	chr13:80059600-80068800	Weak transcription	Brain Substantia Nigra	brain
12	chr13:80059800-80065800	Weak transcription	Brain Anterior Caudate	brain
13	chr13:80060000-80075600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr13:80061000-80066400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr13:80061200-80071200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr13:80062000-80075800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr13:80062600-80065800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr13:80063000-80065800	Weak transcription	Primary T cells from cord blood	blood
19	chr13:80063400-80066000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr13:80063400-80067000	Enhancers	Fetal Heart	heart
21	chr13:80063400-80077200	Weak transcription	K562	blood
22	chr13:80063600-80066800	Weak transcription	Brain Hippocampus Middle	brain
23	chr13:80063600-80067600	Enhancers	Duodenum Mucosa	Duodenum
24	chr13:80063800-80066800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr13:80064000-80066800	Enhancers	Stomach Mucosa	stomach
26	chr13:80064200-80066800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr13:80064200-80066800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr13:80064200-80067000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr13:80064400-80065800	Enhancers	Liver	Liver
30	chr13:80064400-80066400	Weak transcription	Lung	lung
31	chr13:80064400-80066600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr13:80064400-80066600	Enhancers	NHLF	lung
33	chr13:80064400-80066800	Enhancers	Fetal Stomach	stomach
34	chr13:80064400-80066800	Weak transcription	GM12878-XiMat	blood
35	chr13:80064600-80065800	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr13:80064600-80065800	Enhancers	HSMMtube	muscle
37	chr13:80064600-80066200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr13:80064600-80066400	Weak transcription	Left Ventricle	heart
39	chr13:80064600-80067000	Enhancers	Colon Smooth Muscle	Colon
40	chr13:80064600-80067200	Enhancers	NH-A	brain
41	chr13:80064600-80067400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr13:80064600-80069000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr13:80064600-80069000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr13:80064800-80065800	Weak transcription	Fetal Lung	lung
45	chr13:80064800-80066200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr13:80064800-80066400	Weak transcription	Pancreas	Pancrea
47	chr13:80064800-80066600	Weak transcription	Esophagus	oesophagus
48	chr13:80064800-80066600	Weak transcription	Right Atrium	heart
49	chr13:80064800-80066600	Flanking Active TSS	A549	lung
50	chr13:80064800-80067000	Enhancers	NHDF-Ad	bronchial

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