Variant report

Variant	rs12942610
Chromosome Location	chr17:38648475-38648476
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38646024..38649623-chr17:38649808..38652805,4	K562	blood:
2	chr17:38632398..38634313-chr17:38645464..38649244,3	MCF-7	breast:
3	chr17:38646147..38648547-chr17:38673997..38676989,2	MCF-7	breast:
4	chr17:38640983..38649598-chr17:38652430..38659338,11	MCF-7	breast:
5	chr17:38642999..38645925-chr17:38647445..38650025,2	K562	blood:
6	chr17:38647398..38649761-chr17:38676727..38678938,2	K562	blood:
7	chr17:38642192..38648064-chr17:38648142..38651157,5	K562	blood:
8	chr17:38645404..38649775-chr17:38650279..38653252,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000131746	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1901187	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2290206	0.86[ASN][1000 genomes]
rs2290207	0.85[ASN][1000 genomes]
rs34377860	0.85[ASN][1000 genomes]
rs34453034	0.85[ASN][1000 genomes]
rs34456044	0.85[ASN][1000 genomes]
rs34879399	0.85[ASN][1000 genomes]
rs35260012	0.85[ASN][1000 genomes]
rs3764424	0.85[ASN][1000 genomes]
rs7214311	0.97[ASN][1000 genomes]
rs8081819	0.85[ASN][1000 genomes]
rs9303289	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[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	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

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38636000-38649600	Genic enhancers	HMEC	breast
2	chr17:38641000-38648800	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr17:38642000-38654400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr17:38643000-38654200	Weak transcription	Stomach Mucosa	stomach
5	chr17:38643800-38656000	Weak transcription	Right Atrium	heart
6	chr17:38644000-38648600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr17:38644600-38648600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr17:38645000-38648600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr17:38645400-38648600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr17:38645400-38648600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr17:38646000-38648600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr17:38646000-38648800	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr17:38646200-38648600	Enhancers	Colonic Mucosa	Colon
14	chr17:38646200-38648600	Genic enhancers	Placenta	Placenta
15	chr17:38646200-38649000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr17:38646400-38649200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr17:38646800-38648600	Enhancers	Primary T cells from cord blood	blood
18	chr17:38647000-38648600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr17:38647000-38649800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr17:38647000-38655200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
21	chr17:38647000-38656000	Weak transcription	Lung	lung
22	chr17:38647000-38656200	Weak transcription	Gastric	stomach
23	chr17:38647200-38648600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr17:38647200-38649800	Weak transcription	NHDF-Ad	bronchial
25	chr17:38647200-38650000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr17:38647200-38652400	Weak transcription	Spleen	Spleen
27	chr17:38647200-38652400	Weak transcription	HepG2	liver
28	chr17:38647200-38654200	Weak transcription	Adipose Nuclei	Adipose
29	chr17:38647200-38654200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr17:38647200-38655600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr17:38647200-38656000	Weak transcription	Pancreas	Pancrea
32	chr17:38647400-38648800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr17:38647400-38649000	Enhancers	Dnd41	blood
34	chr17:38647400-38649800	Weak transcription	Osteobl	bone
35	chr17:38647400-38650000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr17:38647600-38649800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr17:38647600-38653800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr17:38647800-38648600	Enhancers	Colon Smooth Muscle	Colon
39	chr17:38647800-38649600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr17:38647800-38649600	Genic enhancers	A549	lung
41	chr17:38647800-38649800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr17:38647800-38649800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr17:38647800-38649800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr17:38647800-38649800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr17:38647800-38654200	Weak transcription	K562	blood
46	chr17:38647800-38654400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr17:38648000-38649800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr17:38648000-38654000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr17:38648000-38654600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr17:38648200-38648600	Transcr. at gene 5' and 3'	Hela-S3	cervix

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