Variant report

Variant	rs1977290
Chromosome Location	chr10:96301807-96301808
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:96298438..96300047-chr10:96301709..96303214,2	K562	blood:
2	chr10:96292821..96295042-chr10:96299409..96302003,2	K562	blood:
3	chr10:96299325..96301886-chr10:96304578..96307033,2	K562	blood:

Variant related genes	Relation type
ENSG00000119969	Chromatin interaction
ENSG00000108239	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1018602	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10786168	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10786169	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1079504	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10882469	0.80[ASN][1000 genomes]
rs10882470	0.91[EUR][1000 genomes]
rs10882473	0.81[EUR][1000 genomes]
rs10882474	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10882477	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10882481	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11187939	0.84[AFR][1000 genomes]
rs11187948	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11187958	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11187966	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11187980	0.86[AFR][1000 genomes]
rs11187996	0.88[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs11187998	0.86[ASN][1000 genomes]
rs11188005	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11188009	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11188015	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11188016	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11188017	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11188019	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11188026	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11188030	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11188038	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11188039	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11188040	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11188041	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12218213	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12218216	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12219906	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12220588	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12570013	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12572040	0.80[EUR][1000 genomes]
rs12573638	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1326838	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1326839	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1359263	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1749355	0.83[EUR][1000 genomes]
rs1749356	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1854034	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1854035	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1886272	0.80[ASN][1000 genomes]
rs1889486	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1969815	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2012670	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2148553	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2244241	0.83[EUR][1000 genomes]
rs2265362	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2274096	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2274417	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2281791	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2860760	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2860821	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2901764	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34814196	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35774063	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3758522	0.80[EUR][1000 genomes]
rs3758523	0.81[EUR][1000 genomes]
rs3781262	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4316436	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4421688	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4611135	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4918401	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4918402	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4918403	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4918404	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4918409	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4918411	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4918417	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4918418	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4918419	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs522111	0.81[EUR][1000 genomes]
rs541704	0.83[EUR][1000 genomes]
rs542540	0.82[ASN][1000 genomes]
rs56020662	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs576517	0.81[EUR][1000 genomes]
rs581165	0.83[EUR][1000 genomes]
rs6583944	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6583945	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6583946	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs68046102	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7068337	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7078236	0.88[AFR][1000 genomes]
rs7078811	0.80[EUR][1000 genomes]
rs7079934	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7086462	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7087472	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7393251	0.81[EUR][1000 genomes]
rs7898330	0.84[AFR][1000 genomes]
rs7906843	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7906968	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7921721	0.84[AFR][1000 genomes]
rs912466	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs945123	0.85[EUR][1000 genomes]
rs955694	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761616	chr10:95966768-96303701	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription 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 target site	14 gene(s)	inside rSNPs	diseases
2	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv1819509	chr10:96064300-96361776	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1053747	chr10:96211618-96366396	Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96244400-96304600	Weak transcription	Aorta	Aorta
2	chr10:96261000-96304400	Weak transcription	NH-A	brain
3	chr10:96266000-96304600	Weak transcription	Fetal Kidney	kidney
4	chr10:96267400-96303800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr10:96268400-96304400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr10:96268800-96304400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:96270200-96304200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:96271800-96304000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:96272000-96304600	Weak transcription	HSMMtube	muscle
10	chr10:96274400-96304000	Weak transcription	Stomach Mucosa	stomach
11	chr10:96274400-96304400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr10:96274600-96304000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr10:96280400-96304800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr10:96282200-96304200	Weak transcription	Colonic Mucosa	Colon
15	chr10:96284000-96304200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr10:96284000-96304400	Weak transcription	Osteobl	bone
17	chr10:96284200-96304400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr10:96284200-96304400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr10:96286200-96303800	Weak transcription	Lung	lung
20	chr10:96286200-96304800	Weak transcription	Esophagus	oesophagus
21	chr10:96288600-96304400	Weak transcription	NHLF	lung
22	chr10:96289400-96304400	Weak transcription	HUVEC	blood vessel
23	chr10:96289400-96304600	Weak transcription	Fetal Intestine Small	intestine
24	chr10:96290000-96303600	Weak transcription	HMEC	breast
25	chr10:96291200-96303200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr10:96291200-96303800	Weak transcription	Hela-S3	cervix
27	chr10:96292000-96304800	Weak transcription	Fetal Brain Male	brain
28	chr10:96293400-96304400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr10:96294400-96304400	Weak transcription	Brain Hippocampus Middle	brain
30	chr10:96294400-96304400	Weak transcription	NHDF-Ad	bronchial
31	chr10:96294600-96304000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr10:96294800-96304000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr10:96294800-96304400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:96294800-96304600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr10:96294800-96304600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr10:96294800-96304800	Weak transcription	Left Ventricle	heart
37	chr10:96295000-96304000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr10:96295000-96304200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr10:96295000-96304200	Weak transcription	Fetal Intestine Large	intestine
40	chr10:96295000-96304200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr10:96295000-96304200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr10:96295000-96304200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr10:96295000-96304400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr10:96295000-96304400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr10:96295000-96304400	Weak transcription	Liver	Liver
46	chr10:96295000-96304400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr10:96295000-96304400	Weak transcription	Fetal Lung	lung
48	chr10:96295000-96304600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr10:96295000-96304600	Weak transcription	Brain Substantia Nigra	brain
50	chr10:96295000-96304600	Weak transcription	Ovary	ovary

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