Variant report

Variant	rs1565057
Chromosome Location	chr19:44333192-44333193
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44331547..44333384-chr19:45002930..45004694,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167384	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1036246	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10405318	0.92[CEU][hapmap];0.93[CHB][hapmap];0.80[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10408461	1.00[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10412955	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10415344	0.96[CEU][hapmap];0.86[CHB][hapmap];0.80[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10416116	0.92[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10421861	0.89[EUR][1000 genomes]
rs10500286	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10500287	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11878787	1.00[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11879541	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11880651	0.96[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12462507	0.83[ASN][1000 genomes]
rs12608578	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13344589	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1549953	0.92[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1549954	0.92[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1549955	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1549956	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1549957	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1549959	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17712224	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1909	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1964381	0.88[EUR][1000 genomes]
rs1994414	0.92[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1994415	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1994416	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2016345	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2099356	0.83[ASN][1000 genomes]
rs2163855	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2195981	0.92[CEU][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2217669	0.91[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2356401	1.00[CEU][hapmap];0.93[CHB][hapmap];0.80[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2356403	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2356432	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2356433	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2356434	0.92[CEU][hapmap];0.86[CHB][hapmap];0.80[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2356438	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2356439	0.92[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs239948	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs239949	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2883946	0.96[CEU][hapmap];0.86[CHB][hapmap];0.80[JPT][hapmap]
rs349032	0.92[CEU][hapmap];0.93[CHB][hapmap];0.80[JPT][hapmap];0.85[ASN][1000 genomes]
rs4511643	0.92[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57096959	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57133938	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59503823	0.83[EUR][1000 genomes]
rs60036744	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60085895	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62114569	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62118368	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62118369	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62118371	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62118372	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6509120	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7247308	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7247863	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7248807	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7249057	1.00[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7249413	1.00[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap]
rs7253002	0.92[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7253384	0.92[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7253606	0.92[CEU][hapmap];0.92[CHB][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7254659	0.86[CHB][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7259647	0.89[EUR][1000 genomes]
rs73052639	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73052665	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7508701	0.85[ASN][1000 genomes]
rs8099861	0.92[CEU][hapmap];0.85[CHB][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8106802	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8112065	0.92[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8113286	0.92[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44332000-44334200	Weak transcription	Aorta	Aorta
2	chr19:44332000-44336800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:44332000-44339200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:44332000-44344400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:44332200-44333600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr19:44332200-44333800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr19:44332200-44334000	Weak transcription	Gastric	stomach
8	chr19:44332200-44334000	Weak transcription	Spleen	Spleen
9	chr19:44332200-44334200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr19:44332200-44334200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:44332200-44334200	Weak transcription	Pancreas	Pancrea
12	chr19:44332200-44334200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr19:44332200-44334200	Weak transcription	Thymus	Thymus
14	chr19:44332200-44334400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr19:44332200-44335400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr19:44332200-44335400	Weak transcription	Left Ventricle	heart
17	chr19:44332200-44336600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr19:44332200-44336800	Weak transcription	Esophagus	oesophagus
19	chr19:44332200-44338400	ZNF genes & repeats	A549	lung
20	chr19:44332200-44340400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr19:44332200-44341000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr19:44332400-44333600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr19:44332400-44333600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr19:44332400-44333600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr19:44332400-44333600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr19:44332400-44333600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr19:44332400-44333600	Weak transcription	NHDF-Ad	bronchial
28	chr19:44332400-44333600	Weak transcription	NHEK	skin
29	chr19:44332400-44333800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr19:44332400-44334000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr19:44332400-44334000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr19:44332400-44334000	Weak transcription	Small Intestine	intestine
33	chr19:44332400-44334200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr19:44332400-44334200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr19:44332400-44334200	Weak transcription	Adipose Nuclei	Adipose
36	chr19:44332400-44334200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr19:44332400-44334200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr19:44332400-44334200	Weak transcription	Psoas Muscle	Psoas
39	chr19:44332400-44334200	Weak transcription	Dnd41	blood
40	chr19:44332400-44334400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr19:44332400-44334400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr19:44332400-44334400	Weak transcription	NH-A	brain
43	chr19:44332400-44334600	Weak transcription	Fetal Kidney	kidney
44	chr19:44332400-44335200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr19:44332400-44335400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr19:44332400-44335400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr19:44332400-44335400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr19:44332400-44335600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr19:44332400-44336000	Weak transcription	Colon Smooth Muscle	Colon
50	chr19:44332400-44336200	Weak transcription	Colonic Mucosa	Colon

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