Variant report

Variant	rs2122614
Chromosome Location	chr17:38637639-38637640
allele	A/G
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	CEBPB	chr17:38637371-38637722	A549	lung:	n/a	n/a
2	SIX5	chr17:38635884-38637649	A549	lung:	n/a	chr17:38636594-38636610 chr17:38636594-38636610
3	CEBPB	chr17:38637388-38637694	MCF-7	breast:	n/a	n/a
4	POLR2A	chr17:38636246-38637685	Hela-S3	cervix:	n/a	n/a
5	TCF12	chr17:38635594-38637645	A549	lung:	n/a	chr17:38636751-38636761 chr17:38637155-38637162
6	MAX	chr17:38635618-38637736	A549	lung:	n/a	chr17:38636665-38636680 chr17:38636669-38636679 chr17:38636841-38636848 chr17:38636668-38636679 chr17:38636839-38636849
7	CEBPB	chr17:38637316-38637689	A549	lung:	n/a	n/a
8	CEBPB	chr17:38636683-38637748	A549	lung:	n/a	chr17:38637171-38637182
9	REST	chr17:38636292-38637668	A549	lung:	n/a	n/a
10	BCL3	chr17:38636534-38637738	A549	lung:	n/a	n/a
11	CEBPB	chr17:38637369-38637710	HepG2	liver:	n/a	n/a
12	CEBPB	chr17:38637368-38637677	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38636036..38638375-chr17:38656645..38659245,2	MCF-7	breast:

Variant related genes	Relation type
TNS4	TF binding region
ENSG00000131746	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11078948	0.94[ASN][1000 genomes]
rs11652694	0.90[ASN][1000 genomes]
rs1666263	0.91[ASN][1000 genomes]
rs17557153	0.96[ASN][1000 genomes]
rs35539439	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs475087	0.91[ASN][1000 genomes]
rs56308624	0.88[ASN][1000 genomes]
rs627857	1.00[ASN][1000 genomes]
rs7211995	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7224214	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8079359	0.82[ASN][1000 genomes]
rs9303288	0.91[ASN][1000 genomes]
rs9893209	0.91[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	nsv1058185	chr17:38629339-38689908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38627400-38646200	Weak transcription	Gastric	stomach
2	chr17:38631800-38639600	Enhancers	Primary B cells from peripheral blood	blood
3	chr17:38632000-38639200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr17:38632400-38639200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr17:38632400-38641000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr17:38632800-38641000	Weak transcription	Osteobl	bone
7	chr17:38633000-38641000	Weak transcription	NHLF	lung
8	chr17:38633400-38643800	Weak transcription	Right Ventricle	heart
9	chr17:38634000-38639400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr17:38634200-38639800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr17:38634400-38638200	Enhancers	Primary T cells from cord blood	blood
12	chr17:38635200-38638600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr17:38635600-38638200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr17:38635600-38639400	Enhancers	Primary B cells from cord blood	blood
15	chr17:38635800-38638600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr17:38635800-38638800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr17:38635800-38638800	Enhancers	HepG2	liver
18	chr17:38635800-38641800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr17:38636000-38647000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr17:38636000-38648200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr17:38636000-38649600	Genic enhancers	HMEC	breast
22	chr17:38636200-38638200	Enhancers	Duodenum Mucosa	Duodenum
23	chr17:38636200-38638600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr17:38636400-38637800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr17:38636400-38638200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr17:38636400-38638400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr17:38636400-38639200	Enhancers	Stomach Mucosa	stomach
28	chr17:38636400-38639600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr17:38636600-38637800	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr17:38636600-38639400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr17:38636600-38639400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr17:38636600-38642600	Weak transcription	Right Atrium	heart
33	chr17:38636800-38642000	Genic enhancers	Hela-S3	cervix
34	chr17:38637000-38638600	Transcr. at gene 5' and 3'	A549	lung
35	chr17:38637000-38639400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr17:38637000-38640000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr17:38637000-38640000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr17:38637000-38640200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr17:38637000-38640800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr17:38637000-38640800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr17:38637000-38641000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr17:38637000-38643400	Enhancers	K562	blood
43	chr17:38637000-38644800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr17:38637200-38638200	Weak transcription	Colonic Mucosa	Colon
45	chr17:38637200-38638600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr17:38637200-38639200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr17:38637200-38639400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr17:38637200-38639800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr17:38637200-38641000	Weak transcription	NH-A	brain
50	chr17:38637200-38641200	Enhancers	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links