Variant report

Variant	rs72819659
Chromosome Location	chr17:38650034-38650035
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38646024..38649623-chr17:38649808..38652805,4	K562	blood:
2	chr17:38599522..38602273-chr17:38649440..38651470,2	MCF-7	breast:
3	chr17:38648823..38651196-chr17:38668294..38669923,2	K562	blood:
4	chr17:38642192..38648064-chr17:38648142..38651157,5	K562	blood:

Variant related genes	Relation type
ENSG00000141753	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17472276	1.00[AFR][1000 genomes]
rs56291600	1.00[AFR][1000 genomes]
rs72819636	1.00[AFR][1000 genomes]
rs72819640	1.00[AFR][1000 genomes]
rs72819643	1.00[AFR][1000 genomes]
rs72819648	1.00[AFR][1000 genomes]
rs72819653	1.00[AFR][1000 genomes]
rs72819661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72819664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72819665	1.00[AFR][1000 genomes];1.00[AMR][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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38642000-38654400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr17:38643000-38654200	Weak transcription	Stomach Mucosa	stomach
3	chr17:38643800-38656000	Weak transcription	Right Atrium	heart
4	chr17:38647000-38655200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
5	chr17:38647000-38656000	Weak transcription	Lung	lung
6	chr17:38647000-38656200	Weak transcription	Gastric	stomach
7	chr17:38647200-38652400	Weak transcription	Spleen	Spleen
8	chr17:38647200-38652400	Weak transcription	HepG2	liver
9	chr17:38647200-38654200	Weak transcription	Adipose Nuclei	Adipose
10	chr17:38647200-38654200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr17:38647200-38655600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr17:38647200-38656000	Weak transcription	Pancreas	Pancrea
13	chr17:38647600-38653800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr17:38647800-38654200	Weak transcription	K562	blood
15	chr17:38647800-38654400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr17:38648000-38654000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr17:38648000-38654600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr17:38648200-38654200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr17:38648200-38654200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr17:38648200-38655800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr17:38648400-38650200	Weak transcription	Fetal Thymus	thymus
22	chr17:38648400-38654000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr17:38648400-38654200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr17:38648400-38654800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr17:38648600-38650200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr17:38648600-38650400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr17:38648600-38652200	Weak transcription	Colonic Mucosa	Colon
28	chr17:38648600-38653800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr17:38648600-38653800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr17:38648600-38654000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr17:38648600-38654400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr17:38649000-38654200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr17:38649400-38654200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr17:38649600-38650400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr17:38649600-38650400	Transcr. at gene 5' and 3'	HMEC	breast
36	chr17:38649600-38650600	Transcr. at gene 5' and 3'	Hela-S3	cervix
37	chr17:38649600-38654800	Genic enhancers	Placenta	Placenta
38	chr17:38649600-38655200	Transcr. at gene 5' and 3'	A549	lung
39	chr17:38649600-38657600	Transcr. at gene 5' and 3'	NHEK	skin
40	chr17:38649800-38650200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr17:38649800-38650200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr17:38649800-38650200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr17:38649800-38650200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr17:38649800-38650400	Enhancers	Colon Smooth Muscle	Colon
45	chr17:38649800-38650400	Genic enhancers	Esophagus	oesophagus
46	chr17:38649800-38650600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr17:38649800-38650600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr17:38649800-38650600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr17:38649800-38650600	Enhancers	NHDF-Ad	bronchial
50	chr17:38649800-38650600	Enhancers	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links