Variant report

Variant	rs256737
Chromosome Location	chr19:37863059-37863060
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37861996..37864602-chr19:37959702..37962085,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196437	Chromatin interaction
ENSG00000171827	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1038085	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs10418740	0.82[ASN][1000 genomes]
rs1236810	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs1465434	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1530500	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2045909	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2199644	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs256739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256742	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256743	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2617789	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2972596	0.85[EUR][1000 genomes]
rs320886	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs45483504	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4803228	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs62110388	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62110389	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62110390	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62110392	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62110395	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62110430	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62110431	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62110434	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6508729	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs7251097	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7258906	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73027379	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73027386	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7408736	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057688	chr19:37828019-37988253	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1058788	chr19:37857748-37899157	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv579464	chr19:37858660-37881556	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37860800-37863200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr19:37862200-37863400	Flanking Active TSS	Dnd41	blood
3	chr19:37862200-37867200	ZNF genes & repeats	A549	lung
4	chr19:37862600-37863200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr19:37862600-37863400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr19:37862600-37864400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr19:37862600-37864400	Weak transcription	Small Intestine	intestine
8	chr19:37862600-37864600	Weak transcription	Aorta	Aorta
9	chr19:37862600-37864600	Weak transcription	Left Ventricle	heart
10	chr19:37862600-37864600	Weak transcription	Ovary	ovary
11	chr19:37862600-37864600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr19:37862600-37864800	Weak transcription	Colonic Mucosa	Colon
13	chr19:37862600-37865000	Weak transcription	Placenta	Placenta
14	chr19:37862600-37865800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:37862600-37865800	Weak transcription	Esophagus	oesophagus
16	chr19:37862600-37865800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr19:37862600-37866600	Weak transcription	Gastric	stomach
18	chr19:37862600-37866600	Weak transcription	Stomach Mucosa	stomach
19	chr19:37862600-37871000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:37862800-37863200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr19:37862800-37863200	Enhancers	Fetal Heart	heart
22	chr19:37862800-37863400	Active TSS	Brain Hippocampus Middle	brain
23	chr19:37862800-37863400	Enhancers	Fetal Brain Female	brain
24	chr19:37862800-37863400	Active TSS	Stomach Smooth Muscle	stomach
25	chr19:37862800-37863600	Enhancers	Fetal Brain Male	brain
26	chr19:37862800-37863800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:37862800-37863800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:37862800-37863800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr19:37862800-37863800	Enhancers	Right Ventricle	heart
30	chr19:37862800-37863800	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr19:37862800-37863800	Weak transcription	GM12878-XiMat	blood
32	chr19:37862800-37864000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr19:37862800-37864000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr19:37862800-37864000	Weak transcription	Primary B cells from cord blood	blood
35	chr19:37862800-37864000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr19:37862800-37864000	Weak transcription	Adipose Nuclei	Adipose
37	chr19:37862800-37864000	Weak transcription	Liver	Liver
38	chr19:37862800-37864000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr19:37862800-37864000	Weak transcription	HSMM	muscle
40	chr19:37862800-37864400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr19:37862800-37864400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr19:37862800-37864400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr19:37862800-37864600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:37862800-37864600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr19:37862800-37864600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr19:37862800-37864600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr19:37862800-37864600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr19:37862800-37864600	Weak transcription	Brain Germinal Matrix	brain
49	chr19:37862800-37864600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr19:37862800-37864600	Weak transcription	Fetal Muscle Leg	muscle

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