Variant report

Variant	rs188877
Chromosome Location	chr19:37700296-37700297
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:56734971..56737597-chr19:37700185..37703092,2	MCF-7	breast:
2	chr19:37692673..37695241-chr19:37698158..37700620,2	MCF-7	breast:
3	chr19:37700159..37703141-chr19:37808841..37810702,2	MCF-7	breast:
4	chr19:37699969..37703002-chr19:37707384..37710417,4	MCF-7	breast:
5	chr19:37699250..37701731-chr19:37707688..37710566,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245680	Chromatin interaction
ENSG00000188283	Chromatin interaction
ENSG00000181666	Chromatin interaction
ENSG00000202077	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10402144	0.95[EUR][1000 genomes]
rs10411236	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1234257	0.93[EUR][1000 genomes]
rs1234259	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1234260	0.84[ASN][1000 genomes]
rs1657506	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1664696	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs172786	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28613334	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs320877	0.93[EUR][1000 genomes]
rs320879	0.93[EUR][1000 genomes]
rs320889	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs320891	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs860386	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers 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	25 gene(s)	inside rSNPs	diseases
5	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS 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	22 gene(s)	inside rSNPs	diseases
7	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
10	nsv911655	chr19:37646745-37758082	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37675000-37701000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:37679000-37700800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr19:37680600-37700800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:37680800-37700800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:37680800-37700800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr19:37681000-37700800	Weak transcription	HSMMtube	muscle
7	chr19:37681000-37700800	Weak transcription	HUVEC	blood vessel
8	chr19:37681000-37701000	Weak transcription	Fetal Heart	heart
9	chr19:37687000-37700800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:37689000-37701000	Weak transcription	Stomach Mucosa	stomach
11	chr19:37689400-37700800	Weak transcription	Psoas Muscle	Psoas
12	chr19:37690200-37701000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:37690200-37701000	Weak transcription	Fetal Kidney	kidney
14	chr19:37690400-37700600	Weak transcription	Right Ventricle	heart
15	chr19:37690400-37700800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr19:37695600-37700400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr19:37696600-37701000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr19:37696800-37700600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:37696800-37701000	Weak transcription	Small Intestine	intestine
20	chr19:37697000-37700600	Weak transcription	Colonic Mucosa	Colon
21	chr19:37697000-37700800	Weak transcription	Brain Germinal Matrix	brain
22	chr19:37697000-37700800	Weak transcription	Fetal Thymus	thymus
23	chr19:37698000-37700400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr19:37698000-37700400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr19:37698000-37700400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:37698000-37700400	Weak transcription	NHDF-Ad	bronchial
27	chr19:37698000-37700600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr19:37698000-37700600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr19:37698000-37700600	Weak transcription	Fetal Brain Male	brain
30	chr19:37698000-37700800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr19:37698000-37700800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr19:37698000-37700800	Weak transcription	Brain Anterior Caudate	brain
33	chr19:37698000-37700800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr19:37698000-37700800	Weak transcription	HSMM	muscle
35	chr19:37698200-37700400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:37698200-37700400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:37698200-37700400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:37698200-37700400	Weak transcription	Adipose Nuclei	Adipose
39	chr19:37698200-37700600	Weak transcription	Primary B cells from cord blood	blood
40	chr19:37698200-37700600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr19:37698200-37700600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr19:37698200-37700600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr19:37698200-37700600	Weak transcription	Fetal Intestine Small	intestine
44	chr19:37698200-37700600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr19:37698200-37700600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr19:37698200-37700800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:37698200-37700800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr19:37698200-37700800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr19:37698200-37700800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr19:37698200-37700800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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