Variant report

Variant	rs73596599
Chromosome Location	chr10:22622704-22622705
allele	G/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	chr10:22622616-22631897	H1-neurons	neurons:	n/a	n/a
2	MTA3	chr10:22621983-22623021	GM12878	blood:	n/a	n/a
3	POLR2A	chr10:22622619-22622997	MCF-7	breast:	n/a	n/a
4	POLR2A	chr10:22620955-22623000	K562	blood:	n/a	n/a
5	POLR2A	chr10:22622668-22623191	K562	blood:	n/a	n/a
6	POLR2A	chr10:22622638-22623232	H1-neurons	neurons:	n/a	n/a
7	SUZ12	chr10:22622630-22625652	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:22622538..22625254-chr10:22679693..22681433,2	K562	blood:
2	chr10:22621960..22624576-chr10:22656842..22659614,2	K562	blood:
3	chr10:22290995..22292700-chr10:22622684..22624712,2	K562	blood:

Variant related genes	Relation type
ENSG00000271981	TF binding region
ENSG00000077327	Chromatin interaction
ENSG00000136770	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10828306	0.86[EUR][1000 genomes]
rs11012937	0.86[EUR][1000 genomes]
rs11012952	0.86[EUR][1000 genomes]
rs11012962	0.86[EUR][1000 genomes]
rs11012972	0.81[EUR][1000 genomes]
rs11012977	0.86[EUR][1000 genomes]
rs11012978	0.86[EUR][1000 genomes]
rs11012980	0.86[EUR][1000 genomes]
rs11012989	0.86[EUR][1000 genomes]
rs11552445	0.86[EUR][1000 genomes]
rs11813246	0.81[EUR][1000 genomes]
rs11814745	0.86[EUR][1000 genomes]
rs11817311	0.86[EUR][1000 genomes]
rs11817811	0.81[EUR][1000 genomes]
rs11817873	0.81[EUR][1000 genomes]
rs12241555	0.86[EUR][1000 genomes]
rs12247258	0.81[EUR][1000 genomes]
rs12253249	0.81[EUR][1000 genomes]
rs12261027	0.81[EUR][1000 genomes]
rs12264748	0.86[EUR][1000 genomes]
rs1342317	0.86[EUR][1000 genomes]
rs1539322	0.86[EUR][1000 genomes]
rs16922217	0.86[EUR][1000 genomes]
rs16922235	0.93[EUR][1000 genomes]
rs2066354	0.86[EUR][1000 genomes]
rs2363568	0.81[EUR][1000 genomes]
rs28496146	1.00[EUR][1000 genomes]
rs3004	0.81[EUR][1000 genomes]
rs57283505	0.86[EUR][1000 genomes]
rs57753470	0.86[EUR][1000 genomes]
rs57847001	1.00[EUR][1000 genomes]
rs58046964	0.86[EUR][1000 genomes]
rs58340985	0.86[EUR][1000 genomes]
rs58884708	0.93[EUR][1000 genomes]
rs60602527	1.00[EUR][1000 genomes]
rs60837021	1.00[EUR][1000 genomes]
rs6482209	0.81[EUR][1000 genomes]
rs6482213	0.81[EUR][1000 genomes]
rs6482214	0.81[EUR][1000 genomes]
rs6482215	0.81[EUR][1000 genomes]
rs7068522	0.86[EUR][1000 genomes]
rs7069337	0.86[EUR][1000 genomes]
rs7070356	0.86[EUR][1000 genomes]
rs7071015	0.81[EUR][1000 genomes]
rs7072212	0.86[EUR][1000 genomes]
rs7073377	0.81[EUR][1000 genomes]
rs7074430	1.00[EUR][1000 genomes]
rs7074847	0.86[EUR][1000 genomes]
rs7077927	0.81[EUR][1000 genomes]
rs7078252	0.81[EUR][1000 genomes]
rs7078770	0.86[EUR][1000 genomes]
rs7079531	0.81[EUR][1000 genomes]
rs7086239	0.81[EUR][1000 genomes]
rs7086718	0.86[EUR][1000 genomes]
rs7092483	0.86[EUR][1000 genomes]
rs7094297	0.86[EUR][1000 genomes]
rs7096866	0.86[EUR][1000 genomes]
rs7097932	0.86[EUR][1000 genomes]
rs7099268	0.86[EUR][1000 genomes]
rs7099308	0.86[EUR][1000 genomes]
rs7358106	0.86[EUR][1000 genomes]
rs7358250	0.86[EUR][1000 genomes]
rs73596598	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73596601	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73598505	0.86[EUR][1000 genomes]
rs73598507	0.86[EUR][1000 genomes]
rs73598508	0.86[EUR][1000 genomes]
rs73598512	0.86[EUR][1000 genomes]
rs73598513	0.81[EUR][1000 genomes]
rs7893132	0.86[EUR][1000 genomes]
rs7895113	0.93[EUR][1000 genomes]
rs7895751	0.86[EUR][1000 genomes]
rs7901473	0.81[EUR][1000 genomes]
rs7904538	0.86[EUR][1000 genomes]
rs7904821	0.86[EUR][1000 genomes]
rs7907844	0.86[EUR][1000 genomes]
rs7909597	0.86[EUR][1000 genomes]
rs7914254	0.81[EUR][1000 genomes]
rs7914800	0.86[EUR][1000 genomes]
rs7918271	0.81[EUR][1000 genomes]
rs7919200	0.86[EUR][1000 genomes]
rs7920038	0.86[EUR][1000 genomes]
rs7921358	0.81[EUR][1000 genomes]
rs9663254	0.86[EUR][1000 genomes]
rs9665348	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825292	chr10:22560347-22642200	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv825293	chr10:22575226-22637618	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv825294	chr10:22590627-22644910	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv825295	chr10:22591275-22643207	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv825296	chr10:22591339-22638994	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv894950	chr10:22591830-22639903	Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	esv1817463	chr10:22594765-22626662	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv894955	chr10:22594765-22631256	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv894956	chr10:22594765-22633193	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv894957	chr10:22594765-22637381	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	esv1816646	chr10:22594765-22639707	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv894958	chr10:22594765-22639903	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv825297	chr10:22596793-22637576	Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv825299	chr10:22596793-22638994	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	esv1820141	chr10:22597467-22625441	Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
16	nsv550207	chr10:22605112-22631256	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22615000-22622800	Weak transcription	Spleen	Spleen
2	chr10:22615000-22623400	Weak transcription	Gastric	stomach
3	chr10:22615200-22622800	Weak transcription	Colonic Mucosa	Colon
4	chr10:22615200-22622800	Weak transcription	Pancreas	Pancrea
5	chr10:22615200-22623000	Weak transcription	Ovary	ovary
6	chr10:22615200-22623000	Weak transcription	Right Ventricle	heart
7	chr10:22618400-22622800	Weak transcription	Lung	lung
8	chr10:22618600-22623800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr10:22618600-22624000	Weak transcription	Aorta	Aorta
10	chr10:22618800-22622800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr10:22619000-22622800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr10:22619000-22622800	Weak transcription	Psoas Muscle	Psoas
13	chr10:22619000-22623200	Weak transcription	Brain Angular Gyrus	brain
14	chr10:22619000-22623600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr10:22619000-22624200	Weak transcription	A549	lung
16	chr10:22619200-22622800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr10:22619200-22622800	Weak transcription	NHEK	skin
18	chr10:22619200-22623000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:22619200-22623000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr10:22619200-22623000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr10:22619200-22623200	Weak transcription	Brain Anterior Caudate	brain
22	chr10:22619200-22623200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr10:22619200-22623600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr10:22619200-22628600	Weak transcription	Hela-S3	cervix
25	chr10:22619400-22622800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr10:22619400-22622800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr10:22619400-22623200	Weak transcription	HMEC	breast
28	chr10:22619400-22623400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr10:22619400-22623400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr10:22619400-22623600	Weak transcription	NHDF-Ad	bronchial
31	chr10:22619400-22624000	Weak transcription	HSMM	muscle
32	chr10:22619600-22623400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr10:22620800-22622800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr10:22620800-22623400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr10:22621200-22623000	Flanking Active TSS	Dnd41	blood
36	chr10:22621800-22623000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr10:22621800-22626000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
38	chr10:22622000-22622800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
39	chr10:22622000-22622800	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr10:22622000-22622800	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr10:22622000-22623000	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr10:22622000-22623200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr10:22622000-22623400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr10:22622000-22623400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr10:22622000-22625800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
46	chr10:22622200-22622800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr10:22622200-22623000	Enhancers	Adipose Nuclei	Adipose
48	chr10:22622200-22623000	Flanking Active TSS	GM12878-XiMat	blood
49	chr10:22622200-22623200	Bivalent Enhancer	HUVEC	blood vessel
50	chr10:22622400-22622800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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