Variant report

Variant	rs73621370
Chromosome Location	chr19:55789803-55789804
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55789007..55794976-chr19:55917716..55921043,9	K562	blood:
2	chr19:55788649..55794261-chr19:55847636..55852828,10	K562	blood:
3	chr19:55789004..55791837-chr19:56110524..56113034,2	K562	blood:
4	chr19:55789731..55792765-chr19:55910242..55912226,3	K562	blood:
5	chr19:55788570..55793941-chr19:55917523..55920740,5	MCF-7	breast:
6	chr19:55767441..55772178-chr19:55789060..55793175,7	MCF-7	breast:
7	chr19:55787879..55795650-chr19:55893762..55898931,9	MCF-7	breast:
8	chr19:55725155..55730672-chr19:55787708..55794060,8	K562	blood:
9	chr19:55789007..55793013-chr19:55917737..55920988,5	K562	blood:
10	chr19:55769028..55772088-chr19:55788931..55793273,6	MCF-7	breast:
11	chr19:55789771..55793296-chr19:55950803..55954133,4	K562	blood:
12	chr19:55727873..55730829-chr19:55787708..55791463,3	K562	blood:
13	chr19:55781030..55783901-chr19:55788247..55790308,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105063	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000267531	Chromatin interaction
ENSG00000187902	Chromatin interaction
ENSG00000179943	Chromatin interaction
ENSG00000133247	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000267649	Chromatin interaction
ENSG00000267093	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000171443	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17851414	1.00[AMR][1000 genomes]
rs59551167	1.00[AMR][1000 genomes]
rs60578937	1.00[AMR][1000 genomes]
rs7252420	1.00[AMR][1000 genomes]
rs73605127	1.00[AMR][1000 genomes]
rs73605140	1.00[AMR][1000 genomes]
rs73605148	1.00[AMR][1000 genomes]
rs73605165	1.00[AMR][1000 genomes]
rs73605195	1.00[AMR][1000 genomes]
rs73607029	1.00[AMR][1000 genomes]
rs73607052	1.00[AMR][1000 genomes]
rs73619590	1.00[AMR][1000 genomes]
rs73619602	1.00[AMR][1000 genomes]
rs73621321	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621332	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621334	1.00[AMR][1000 genomes]
rs73621343	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621359	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621364	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621369	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9676742	0.89[AFR][1000 genomes];1.00[AMR][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	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
5	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
6	nsv912458	chr19:55763409-55823822	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 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	chr19:55771400-55790400	Weak transcription	HSMM	muscle
2	chr19:55771400-55790400	Weak transcription	NHDF-Ad	bronchial
3	chr19:55771400-55791600	Weak transcription	Fetal Heart	heart
4	chr19:55771600-55790400	Weak transcription	HUVEC	blood vessel
5	chr19:55772200-55790400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:55772800-55790200	Strong transcription	Fetal Stomach	stomach
7	chr19:55774400-55790400	Weak transcription	Psoas Muscle	Psoas
8	chr19:55778200-55790200	Weak transcription	Fetal Brain Male	brain
9	chr19:55778400-55790400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:55778400-55790400	Weak transcription	Fetal Kidney	kidney
11	chr19:55778800-55790200	Strong transcription	Fetal Intestine Small	intestine
12	chr19:55779000-55790200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:55780000-55790400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr19:55780000-55790400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr19:55780600-55790200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:55780800-55790600	Weak transcription	Small Intestine	intestine
17	chr19:55781200-55790200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr19:55785000-55790400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr19:55785600-55790200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr19:55785600-55790400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr19:55786200-55790400	Weak transcription	A549	lung
22	chr19:55786200-55791000	Enhancers	Primary B cells from peripheral blood	blood
23	chr19:55786400-55790000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr19:55786800-55790400	Weak transcription	Fetal Thymus	thymus
25	chr19:55787600-55790000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:55788000-55790000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr19:55788000-55790800	Weak transcription	Right Atrium	heart
28	chr19:55788400-55790400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr19:55788400-55790400	Weak transcription	NH-A	brain
30	chr19:55788600-55790000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr19:55788600-55791000	Enhancers	Primary B cells from cord blood	blood
32	chr19:55788800-55790200	Weak transcription	HepG2	liver
33	chr19:55788800-55790400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr19:55788800-55790400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr19:55788800-55790400	Weak transcription	Osteobl	bone
36	chr19:55788800-55790600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr19:55789000-55790200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:55789000-55790200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr19:55789000-55790400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr19:55789000-55790400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr19:55789000-55790400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:55789000-55790400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr19:55789000-55790400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr19:55789000-55790400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr19:55789000-55790400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr19:55789000-55790400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr19:55789000-55790400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr19:55789000-55790400	Weak transcription	Brain Hippocampus Middle	brain
49	chr19:55789000-55790400	Weak transcription	Brain Substantia Nigra	brain
50	chr19:55789000-55790400	Weak transcription	Colon Smooth Muscle	Colon

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