Variant report

Variant	rs4890114
Chromosome Location	chr17:38603549-38603550
allele	A/G
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38461615..38484404-chr17:38597525..38608992,85	MCF-7	breast:
2	chr17:38571221..38576195-chr17:38597437..38603899,8	K562	blood:
3	chr17:38593953..38595936-chr17:38603501..38605145,2	K562	blood:
4	chr17:38471466..38480107-chr17:38600254..38606378,11	MCF-7	breast:
5	chr17:38602265..38605118-chr17:38774156..38776452,3	MCF-7	breast:
6	chr17:38571246..38572914-chr17:38603298..38604938,2	MCF-7	breast:
7	chr17:38178365..38179902-chr17:38603489..38605026,2	MCF-7	breast:
8	chr17:38602079..38606730-chr17:38731015..38734149,5	MCF-7	breast:
9	chr17:38601392..38604207-chr17:38609285..38611713,3	K562	blood:
10	chr17:38600670..38603661-chr17:38683686..38685689,3	MCF-7	breast:
11	chr17:38517329..38520518-chr17:38602405..38606714,4	MCF-7	breast:
12	chr17:38602611..38606842-chr17:39683869..39688015,6	MCF-7	breast:
13	chr17:38588540..38590112-chr17:38602415..38604178,2	MCF-7	breast:
14	chr17:38602443..38604183-chr17:38672977..38675487,2	MCF-7	breast:
15	chr17:38603038..38607716-chr17:38714086..38717959,10	MCF-7	breast:
16	chr17:38572047..38583621-chr17:38597341..38605150,24	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000126353	Chromatin interaction
ENSG00000131747	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000183153	Chromatin interaction
ENSG00000171345	Chromatin interaction
ENSG00000266088	Chromatin interaction
ENSG00000008838	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1009570	0.81[CHD][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs10852940	0.84[JPT][hapmap];0.81[AMR][1000 genomes]
rs11078945	0.81[CHD][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs1868758	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2015561	0.81[CHD][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs584438	0.81[CHD][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs584828	0.81[CHD][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs598892	0.81[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	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv908223	chr17:38530799-38609187	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38600200-38605600	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr17:38600200-38609800	Transcr. at gene 5' and 3'	A549	lung
3	chr17:38600600-38605400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr17:38600600-38605600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr17:38600800-38604200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr17:38600800-38604400	Weak transcription	Primary T cells from cord blood	blood
7	chr17:38600800-38605400	Transcr. at gene 5' and 3'	Osteobl	bone
8	chr17:38600800-38613800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr17:38601000-38605600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr17:38601400-38605200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
11	chr17:38601400-38605200	Flanking Active TSS	HUVEC	blood vessel
12	chr17:38601600-38603800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr17:38601600-38603800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr17:38601600-38605600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
15	chr17:38601800-38604400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr17:38601800-38604600	Weak transcription	Brain Substantia Nigra	brain
17	chr17:38601800-38605000	Weak transcription	Thymus	Thymus
18	chr17:38601800-38605600	Transcr. at gene 5' and 3'	NHLF	lung
19	chr17:38601800-38608200	Enhancers	Fetal Heart	heart
20	chr17:38601800-38608600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr17:38601800-38612600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:38601800-38614000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr17:38602000-38603600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr17:38602000-38604200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr17:38602000-38604200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr17:38602000-38604600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:38602000-38605600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr17:38602000-38608600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr17:38602000-38609200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr17:38602200-38603600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr17:38602200-38603600	Weak transcription	HSMM	muscle
32	chr17:38602200-38603800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr17:38602200-38603800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr17:38602200-38604000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr17:38602200-38604000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr17:38602200-38604000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr17:38602200-38604200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr17:38602200-38604200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr17:38602200-38604800	Weak transcription	HMEC	breast
40	chr17:38602200-38605000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr17:38602200-38605000	Weak transcription	Brain Anterior Caudate	brain
42	chr17:38602200-38608400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr17:38602200-38608400	Enhancers	Stomach Mucosa	stomach
44	chr17:38602200-38608600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:38602200-38608800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr17:38602200-38609200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr17:38602200-38609600	Weak transcription	Brain Germinal Matrix	brain
48	chr17:38602200-38610400	Weak transcription	Primary B cells from cord blood	blood
49	chr17:38602200-38614000	Weak transcription	Fetal Brain Female	brain
50	chr17:38602200-38614400	Weak transcription	Brain Angular Gyrus	brain

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