Variant report

Variant	rs57130444
Chromosome Location	chr10:28377245-28377246
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11006838	1.00[EUR][1000 genomes]
rs11814132	1.00[EUR][1000 genomes]
rs11818106	1.00[EUR][1000 genomes]
rs16927673	1.00[EUR][1000 genomes]
rs56086075	1.00[EUR][1000 genomes]
rs56335062	1.00[EUR][1000 genomes]
rs57643587	1.00[EUR][1000 genomes]
rs58628171	1.00[EUR][1000 genomes]
rs59051253	1.00[EUR][1000 genomes]
rs59271137	1.00[EUR][1000 genomes]
rs60814150	1.00[EUR][1000 genomes]
rs61213930	0.87[AFR][1000 genomes]
rs61344519	1.00[EUR][1000 genomes]
rs61345755	1.00[EUR][1000 genomes]
rs61610224	1.00[EUR][1000 genomes]
rs7078969	1.00[EUR][1000 genomes]
rs7093804	1.00[EUR][1000 genomes]
rs7097374	1.00[EUR][1000 genomes]
rs74127139	1.00[EUR][1000 genomes]
rs74127142	1.00[EUR][1000 genomes]
rs74127147	1.00[EUR][1000 genomes]
rs74127152	1.00[EUR][1000 genomes]
rs74127165	1.00[EUR][1000 genomes]
rs74127175	1.00[EUR][1000 genomes]
rs7895017	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917149	chr10:28018919-28688694	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv831815	chr10:28235661-28407533	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1042524	chr10:28290149-28506812	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv831816	chr10:28304698-28493635	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv894988	chr10:28337570-28410989	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv525448	chr10:28337570-28563732	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv466855	chr10:28341783-28400835	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
8	nsv550284	chr10:28341783-28400835	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
9	nsv831817	chr10:28369836-28539930	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv1817535	chr10:28373644-28409054	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1848511	chr10:28373644-28464753	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28341200-28377600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr10:28347000-28380400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr10:28347000-28381000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr10:28347000-28412200	Weak transcription	Left Ventricle	heart
5	chr10:28347000-28414600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr10:28348000-28381200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr10:28357200-28380200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr10:28364600-28378800	Weak transcription	Fetal Muscle Leg	muscle
9	chr10:28364800-28377600	Weak transcription	Fetal Heart	heart
10	chr10:28364800-28378400	Weak transcription	HSMMtube	muscle
11	chr10:28364800-28379600	Weak transcription	Adipose Nuclei	Adipose
12	chr10:28364800-28392000	Weak transcription	Gastric	stomach
13	chr10:28364800-28416600	Weak transcription	Pancreas	Pancrea
14	chr10:28365000-28379600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr10:28365200-28379600	Weak transcription	HepG2	liver
16	chr10:28365200-28380200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr10:28367400-28378800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:28367800-28377400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:28367800-28420200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr10:28369400-28378800	Strong transcription	Primary T cells from cord blood	blood
21	chr10:28371200-28378800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr10:28371400-28379800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr10:28373400-28379600	Weak transcription	Lung	lung
24	chr10:28373600-28378600	Strong transcription	Stomach Smooth Muscle	stomach
25	chr10:28373600-28378800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr10:28374000-28378800	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr10:28374200-28379000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr10:28375200-28377800	Weak transcription	Right Ventricle	heart
29	chr10:28375200-28378600	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr10:28375400-28378000	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr10:28375400-28378400	Strong transcription	Primary hematopoietic stem cells	blood
32	chr10:28375400-28378600	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr10:28375400-28379200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr10:28375600-28378200	Strong transcription	Fetal Stomach	stomach
35	chr10:28375600-28378600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
36	chr10:28375600-28379200	Strong transcription	Aorta	Aorta
37	chr10:28375600-28380000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr10:28375800-28378800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr10:28376000-28379200	Strong transcription	Fetal Intestine Small	intestine
40	chr10:28376000-28438400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr10:28376200-28379000	Strong transcription	Primary B cells from cord blood	blood
42	chr10:28376600-28377600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr10:28376600-28378400	Enhancers	Hela-S3	cervix
44	chr10:28376600-28378600	Strong transcription	Colon Smooth Muscle	Colon
45	chr10:28376600-28378600	Enhancers	HMEC	breast
46	chr10:28376600-28379200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr10:28376600-28379200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr10:28376600-28382200	Enhancers	HUVEC	blood vessel
49	chr10:28376600-28416600	Weak transcription	Fetal Intestine Large	intestine
50	chr10:28376800-28377400	Genic enhancers	Primary monocytes fromperipheralblood	blood

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