Variant report

Variant	rs12257537
Chromosome Location	chr10:46014671-46014672
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:46013794..46015809-chr10:46017694..46020673,2	K562	blood:
2	chr10:46009283..46010923-chr10:46013025..46015001,2	K562	blood:
3	chr10:46009283..46011028-chr10:46011723..46015001,3	K562	blood:
4	chr10:46013794..46016102-chr10:46018304..46020673,2	K562	blood:
5	chr10:46014012..46015571-chr10:46081118..46083546,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10466245	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10900221	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10900223	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10900224	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10900229	0.89[ASW][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.90[LWK][hapmap];0.89[ASN][1000 genomes]
rs10900230	0.89[ASN][1000 genomes]
rs10900232	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs11239528	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11239532	0.85[CHD][hapmap]
rs11239536	0.90[ASN][1000 genomes]
rs11239538	0.96[ASN][1000 genomes]
rs11239545	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11239551	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11239569	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11239571	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11239582	0.90[LWK][hapmap]
rs12240643	0.80[AFR][1000 genomes]
rs12242611	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12243153	0.96[ASN][1000 genomes]
rs12243845	1.00[LWK][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes]
rs12244834	0.87[YRI][hapmap];0.80[AFR][1000 genomes]
rs12246131	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12249012	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12255138	0.87[YRI][hapmap];0.80[AFR][1000 genomes]
rs12257549	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12267385	0.90[LWK][hapmap]
rs12269403	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17854567	0.86[GIH][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap]
rs1906284	0.87[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2291428	0.90[ASN][1000 genomes]
rs2291429	0.90[ASN][1000 genomes]
rs2305299	0.86[GIH][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap]
rs3802548	0.87[ASN][1000 genomes]
rs41365544	0.80[AFR][1000 genomes]
rs55665473	0.96[ASN][1000 genomes]
rs58865519	0.96[ASN][1000 genomes]
rs59390133	0.89[ASN][1000 genomes]
rs61854096	0.96[ASN][1000 genomes]
rs61854123	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs61854156	0.89[ASN][1000 genomes]
rs7076198	0.96[ASN][1000 genomes]
rs7086046	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.96[ASN][1000 genomes]
rs72796498	0.96[ASN][1000 genomes]
rs970548	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv895108	chr10:45878908-46224333	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv895109	chr10:45882741-46210665	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv1043536	chr10:45915941-46076235	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv895111	chr10:45989745-46071900	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv895112	chr10:46012620-46202216	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45989200-46015200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr10:45999000-46025600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr10:46000800-46019800	Weak transcription	Primary B cells from cord blood	blood
4	chr10:46005000-46025200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr10:46005400-46029800	Weak transcription	Fetal Kidney	kidney
6	chr10:46007600-46021600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr10:46007800-46027400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr10:46008400-46027200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr10:46008800-46021800	Weak transcription	Spleen	Spleen
10	chr10:46009000-46021000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr10:46009200-46015200	Weak transcription	Aorta	Aorta
12	chr10:46009400-46044400	Weak transcription	Thymus	Thymus
13	chr10:46010000-46015000	Weak transcription	Ovary	ovary
14	chr10:46010000-46021600	Weak transcription	Right Atrium	heart
15	chr10:46010000-46027800	Weak transcription	Lung	lung
16	chr10:46010000-46056000	Weak transcription	Esophagus	oesophagus
17	chr10:46010200-46027200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr10:46010200-46028800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr10:46010600-46015200	Weak transcription	Liver	Liver
20	chr10:46010800-46021600	Weak transcription	Fetal Muscle Leg	muscle
21	chr10:46010800-46025600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr10:46011000-46025400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr10:46011200-46019200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr10:46011400-46015200	Weak transcription	Pancreas	Pancrea
25	chr10:46011400-46021600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr10:46011400-46027200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr10:46011600-46030200	Weak transcription	HepG2	liver
28	chr10:46011800-46021600	Weak transcription	Brain Hippocampus Middle	brain
29	chr10:46013200-46015000	Weak transcription	Gastric	stomach
30	chr10:46013200-46027400	Weak transcription	Left Ventricle	heart
31	chr10:46013800-46015400	Enhancers	Adipose Nuclei	Adipose
32	chr10:46014000-46019200	Weak transcription	Primary T cells from cord blood	blood
33	chr10:46014000-46027400	Weak transcription	Fetal Intestine Small	intestine
34	chr10:46014200-46016800	Weak transcription	K562	blood
35	chr10:46014400-46015000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:46014400-46070000	Weak transcription	Psoas Muscle	Psoas

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