Variant report

Variant	rs16970014
Chromosome Location	chr19:35653180-35653181
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:35652169-35653220	K562	blood:	n/a	n/a
2	POLR2A	chr19:35652868-35653184	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:35650702..35653470-chr19:35739367..35741084,2	K562	blood:

Variant related genes	Relation type
FXYD5	TF binding region
ENSG00000105699	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10410144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12608443	0.92[EUR][1000 genomes]
rs12610110	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16970012	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4805109	0.92[EUR][1000 genomes]
rs56115369	0.92[EUR][1000 genomes]
rs56263489	0.86[EUR][1000 genomes]
rs56347218	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56821088	0.92[EUR][1000 genomes]
rs59086958	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61709658	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911616	chr19:35577870-35669071	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35646400-35655000	Weak transcription	Brain Angular Gyrus	brain
2	chr19:35646600-35653600	Weak transcription	HSMMtube	muscle
3	chr19:35646600-35656800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:35646800-35655000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:35647000-35653400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr19:35647000-35653600	Weak transcription	Colonic Mucosa	Colon
7	chr19:35647000-35654800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:35647000-35654800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr19:35647600-35653400	Strong transcription	Fetal Intestine Small	intestine
10	chr19:35647600-35653800	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr19:35647600-35654200	Strong transcription	NHLF	lung
12	chr19:35647600-35655200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:35647800-35653200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr19:35647800-35653400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:35647800-35657000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr19:35648000-35653200	Strong transcription	HMEC	breast
17	chr19:35648000-35653400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr19:35648000-35653600	Strong transcription	HUVEC	blood vessel
19	chr19:35648000-35653800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:35648000-35654200	Strong transcription	Primary hematopoietic stem cells	blood
21	chr19:35648000-35654800	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr19:35648000-35655000	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr19:35648000-35655200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr19:35648000-35661600	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr19:35648000-35661800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:35648200-35653400	Strong transcription	Dnd41	blood
27	chr19:35648200-35653800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr19:35648200-35654000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr19:35648200-35656600	Strong transcription	Fetal Thymus	thymus
30	chr19:35648200-35662800	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr19:35648400-35653600	Strong transcription	Osteobl	bone
32	chr19:35648400-35654000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr19:35648400-35657000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:35648600-35653400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:35648600-35653600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:35648600-35654600	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr19:35649200-35653600	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr19:35649200-35657000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr19:35649400-35655000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr19:35649400-35656400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:35649400-35656800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr19:35649400-35657400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
43	chr19:35650000-35656600	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr19:35650200-35653400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr19:35650200-35654000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr19:35650200-35654800	Strong transcription	Gastric	stomach
47	chr19:35650400-35653600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr19:35650400-35653600	Strong transcription	NHDF-Ad	bronchial
49	chr19:35650400-35655800	Strong transcription	Duodenum Mucosa	Duodenum
50	chr19:35650600-35654400	Weak transcription	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links