Variant report

Variant	rs11883392
Chromosome Location	chr19:38069192-38069193
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38068606..38070757-chr19:38083819..38085850,2	MCF-7	breast:
2	chr19:38068003..38069811-chr19:38073783..38075414,2	MCF-7	breast:
3	chr19:38063030..38065590-chr19:38067870..38069541,2	K562	blood:

Variant related genes	Relation type
ENSG00000171817	Chromatin interaction
ENSG00000180479	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1038084	0.89[CEU][hapmap]
rs1038085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10407657	0.85[CEU][hapmap]
rs10417204	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10424612	0.89[CEU][hapmap]
rs10425671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11665877	0.84[EUR][1000 genomes]
rs11667454	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11667457	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11668434	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs11668558	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs11670655	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11672077	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1236810	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12972712	0.84[EUR][1000 genomes]
rs12981237	0.84[EUR][1000 genomes]
rs12982288	0.84[EUR][1000 genomes]
rs12983298	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1465434	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17306508	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs17306795	0.91[CHB][hapmap]
rs1871197	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2045909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2126978	0.84[CEU][hapmap]
rs2160640	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2199644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2291000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2385116	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2385124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2385125	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs241948	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs2617789	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2927741	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2927744	0.85[CEU][hapmap]
rs2972453	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2972454	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2972456	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2972459	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3112435	0.84[EUR][1000 genomes]
rs34351186	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34607899	0.86[EUR][1000 genomes]
rs34782935	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35015599	0.84[EUR][1000 genomes]
rs35214625	0.84[EUR][1000 genomes]
rs35273320	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35415221	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs36020184	0.83[EUR][1000 genomes]
rs36092052	0.83[EUR][1000 genomes]
rs3752365	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs4273159	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4482404	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs4802066	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4802069	0.85[CEU][hapmap]
rs4803216	0.89[CEU][hapmap]
rs4803228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57308437	0.84[EUR][1000 genomes]
rs62108304	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62108339	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62108355	0.83[EUR][1000 genomes]
rs6508729	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6508738	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7251097	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs7253174	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7254170	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7254828	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7255283	0.85[CEU][hapmap]
rs7256747	0.84[EUR][1000 genomes]
rs8111055	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8113076	0.85[CEU][hapmap]
rs856302	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers 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	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38032400-38080800	ZNF genes & repeats	Liver	Liver
2	chr19:38032600-38075200	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:38038000-38078400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:38038600-38079600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:38041200-38079600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:38045000-38078600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:38046400-38071800	ZNF genes & repeats	Brain Hippocampus Middle	brain
8	chr19:38046600-38079600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
9	chr19:38047400-38078600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
10	chr19:38049200-38079600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
11	chr19:38051600-38077600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
12	chr19:38051600-38078800	ZNF genes & repeats	Fetal Brain Female	brain
13	chr19:38052200-38075200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
14	chr19:38052200-38078600	ZNF genes & repeats	Primary B cells from cord blood	blood
15	chr19:38053200-38078200	ZNF genes & repeats	Brain Germinal Matrix	brain
16	chr19:38053200-38078600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:38053400-38078400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
18	chr19:38059800-38078000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr19:38060600-38069200	ZNF genes & repeats	Fetal Lung	lung
20	chr19:38061800-38069200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr19:38065200-38078800	ZNF genes & repeats	Colon Smooth Muscle	Colon
22	chr19:38065800-38078400	ZNF genes & repeats	Primary T cells from cord blood	blood
23	chr19:38065800-38078600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
24	chr19:38066000-38072000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
25	chr19:38066200-38069800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr19:38066800-38071200	Weak transcription	Fetal Heart	heart
27	chr19:38067000-38077200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:38067800-38070600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:38068200-38069400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:38068200-38069400	ZNF genes & repeats	Brain Angular Gyrus	brain
31	chr19:38068200-38070200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
32	chr19:38068200-38071600	ZNF genes & repeats	Brain Anterior Caudate	brain
33	chr19:38068200-38078200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
34	chr19:38068400-38069400	ZNF genes & repeats	Right Ventricle	heart
35	chr19:38068400-38071800	ZNF genes & repeats	Brain Substantia Nigra	brain
36	chr19:38068400-38071800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
37	chr19:38068400-38073200	Weak transcription	HSMMtube	muscle
38	chr19:38068400-38073400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
39	chr19:38068400-38078000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
40	chr19:38068400-38078200	ZNF genes & repeats	Fetal Muscle Leg	muscle
41	chr19:38068400-38078400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:38068400-38078600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr19:38068400-38078800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
44	chr19:38068600-38070200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr19:38068600-38070400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr19:38068600-38070400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr19:38068600-38070400	ZNF genes & repeats	Esophagus	oesophagus
48	chr19:38068600-38070400	ZNF genes & repeats	Fetal Intestine Small	intestine
49	chr19:38068600-38070400	ZNF genes & repeats	Fetal Stomach	stomach
50	chr19:38068600-38070400	ZNF genes & repeats	Lung	lung

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