Variant report

Variant	rs34573359
Chromosome Location	chr10:96077576-96077577
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:96077408-96078473	HepG2	liver:	n/a	n/a
2	POLR2A	chr10:96077556-96077816	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr10:96077330-96078448	K562	blood:	n/a	n/a
4	POLR2A	chr10:96077336-96077951	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:96077115-96078544	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:96071834..96074250-chr10:96075150..96077634,3	K562	blood:
2	chr10:96076256..96077849-chr10:96078419..96080077,2	K562	blood:

Variant related genes	Relation type
ENSG00000273450	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11814451	1.00[ASN][1000 genomes]
rs11817642	1.00[ASN][1000 genomes]
rs12255683	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12766693	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12773803	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12774398	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12778016	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12780240	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12781422	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12781481	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12781628	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12782263	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12783744	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12783751	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1678	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17438643	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17438706	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17439123	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17516758	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17516904	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17517368	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17517515	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17517578	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17517669	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3203713	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34032820	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34053022	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34156870	1.00[ASN][1000 genomes]
rs34818536	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34999028	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35058175	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35084709	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35247409	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35258481	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35348430	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35446195	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35658839	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4394764	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57178050	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60342760	0.88[AFR][1000 genomes]
rs71480900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71482303	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71482304	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71482305	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71482306	1.00[ASN][1000 genomes]
rs72812701	1.00[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	nsv1036676	chr10:95851376-96103876	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	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
3	nsv831946	chr10:96055190-96226438	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96031800-96121000	Weak transcription	Stomach Mucosa	stomach
2	chr10:96036000-96081600	Weak transcription	Left Ventricle	heart
3	chr10:96043600-96121000	Weak transcription	Psoas Muscle	Psoas
4	chr10:96049400-96081600	Weak transcription	Spleen	Spleen
5	chr10:96053000-96083200	Weak transcription	Fetal Kidney	kidney
6	chr10:96053200-96081600	Weak transcription	Brain Substantia Nigra	brain
7	chr10:96059400-96083200	Weak transcription	Brain Anterior Caudate	brain
8	chr10:96059600-96081600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr10:96067400-96081800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr10:96067400-96084400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr10:96069200-96089800	Weak transcription	HUVEC	blood vessel
12	chr10:96069600-96081600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:96070200-96081800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr10:96070400-96081800	Weak transcription	Lung	lung
15	chr10:96071000-96077800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:96071000-96081600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr10:96071400-96081800	Weak transcription	Colonic Mucosa	Colon
18	chr10:96072000-96079200	Weak transcription	HSMM	muscle
19	chr10:96072400-96080800	Weak transcription	GM12878-XiMat	blood
20	chr10:96072600-96080400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr10:96072600-96081600	Weak transcription	Esophagus	oesophagus
22	chr10:96072800-96093800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr10:96073200-96084200	Weak transcription	Brain Germinal Matrix	brain
24	chr10:96073800-96084000	Weak transcription	Ovary	ovary
25	chr10:96074000-96080400	Weak transcription	A549	lung
26	chr10:96074000-96081000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr10:96074000-96081600	Weak transcription	Fetal Brain Female	brain
28	chr10:96074000-96084200	Weak transcription	Gastric	stomach
29	chr10:96075200-96078400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr10:96075200-96080400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr10:96075200-96081200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr10:96075200-96081600	Weak transcription	Placenta	Placenta
33	chr10:96075200-96081800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr10:96075200-96081800	Weak transcription	Pancreas	Pancrea
35	chr10:96075200-96091000	Weak transcription	Right Ventricle	heart
36	chr10:96075200-96112200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr10:96075400-96081600	Weak transcription	Aorta	Aorta
38	chr10:96075800-96081600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr10:96075800-96081800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr10:96075800-96087200	Weak transcription	Small Intestine	intestine
41	chr10:96076000-96080200	Weak transcription	Fetal Muscle Leg	muscle
42	chr10:96076000-96081800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr10:96076000-96081800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr10:96076000-96081800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr10:96076000-96089000	Weak transcription	Fetal Heart	heart
46	chr10:96076000-96095800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr10:96076200-96081600	Weak transcription	Adipose Nuclei	Adipose
48	chr10:96076200-96083600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr10:96076400-96077800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr10:96076400-96081600	Weak transcription	NH-A	brain

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