Variant report

Variant	rs11078948
Chromosome Location	chr17:38639417-38639418
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	POLR2A	chr17:38637848-38650725	A549	lung:	n/a	n/a
2	TCF12	chr17:38637770-38639740	A549	lung:	n/a	n/a
3	POLR2A	chr17:38639013-38641604	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr17:38638883-38645646	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr17:38639057-38639435	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr17:38638947-38641454	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr17:38638060-38645729	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:38639003..38641951-chr17:38683883..38685651,2	MCF-7	breast:
2	chr17:38633817..38637978-chr17:38639202..38643004,3	K562	blood:
3	chr17:38638255..38640177-chr17:38640329..38642532,3	K562	blood:

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

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11652694	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1666263	0.86[ASN][1000 genomes]
rs17557153	0.90[ASN][1000 genomes]
rs2122614	0.94[ASN][1000 genomes]
rs475087	0.86[ASN][1000 genomes]
rs56308624	0.83[ASN][1000 genomes]
rs627857	0.94[ASN][1000 genomes]
rs7211995	0.84[ASN][1000 genomes]
rs8079359	0.84[ASN][1000 genomes]
rs9303288	0.86[ASN][1000 genomes]
rs9893209	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv908224	chr17:38638251-38651447	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3325318	chr17:38639146-38639517	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 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	chr17:38632400-38641000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr17:38632800-38641000	Weak transcription	Osteobl	bone
5	chr17:38633000-38641000	Weak transcription	NHLF	lung
6	chr17:38633400-38643800	Weak transcription	Right Ventricle	heart
7	chr17:38634200-38639800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr17:38635800-38641800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr17:38636000-38647000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr17:38636000-38648200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr17:38636000-38649600	Genic enhancers	HMEC	breast
12	chr17:38636400-38639600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr17:38636600-38642600	Weak transcription	Right Atrium	heart
14	chr17:38636800-38642000	Genic enhancers	Hela-S3	cervix
15	chr17:38637000-38640000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr17:38637000-38640000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr17:38637000-38640200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr17:38637000-38640800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:38637000-38640800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr17:38637000-38641000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr17:38637000-38643400	Enhancers	K562	blood
22	chr17:38637000-38644800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr17:38637200-38639800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr17:38637200-38641000	Weak transcription	NH-A	brain
25	chr17:38637200-38641200	Enhancers	Primary T cells fromperipheralblood	blood
26	chr17:38637200-38642000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr17:38637400-38640200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr17:38637400-38641000	Weak transcription	HSMM	muscle
29	chr17:38637400-38642000	Strong transcription	Placenta	Placenta
30	chr17:38637400-38642200	Weak transcription	Adipose Nuclei	Adipose
31	chr17:38637400-38642400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr17:38637400-38642800	Weak transcription	Small Intestine	intestine
33	chr17:38637400-38645600	Weak transcription	Spleen	Spleen
34	chr17:38637400-38648200	Genic enhancers	NHEK	skin
35	chr17:38637600-38640200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr17:38637600-38640200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr17:38637600-38640200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr17:38637600-38640400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr17:38637600-38641000	Weak transcription	NHDF-Ad	bronchial
40	chr17:38637600-38641400	Weak transcription	Dnd41	blood
41	chr17:38637600-38642200	Weak transcription	Fetal Thymus	thymus
42	chr17:38637600-38642600	Weak transcription	Esophagus	oesophagus
43	chr17:38638200-38639800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr17:38638200-38642800	Weak transcription	Primary T cells from cord blood	blood
45	chr17:38638200-38646400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr17:38638400-38640200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr17:38638400-38643200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr17:38638600-38639600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr17:38638600-38640000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr17:38638600-38640200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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