Variant report

Variant	rs72819653
Chromosome Location	chr17:38642898-38642899
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38642574..38644263-chr17:38714423..38716746,2	K562	blood:
2	chr17:38640900..38643857-chr17:38669358..38670867,2	MCF-7	breast:
3	chr17:38642763..38644324-chr17:38714423..38717219,2	K562	blood:
4	chr17:38641568..38644220-chr17:38656401..38660541,4	MCF-7	breast:
5	chr17:38640893..38644463-chr17:38672113..38675330,4	MCF-7	breast:
6	chr17:38633817..38637978-chr17:38639202..38643004,3	K562	blood:
7	chr17:38640863..38643911-chr17:38644729..38647819,3	MCF-7	breast:
8	chr17:38640983..38649598-chr17:38652430..38659338,11	MCF-7	breast:
9	chr17:38642192..38648064-chr17:38648142..38651157,5	K562	blood:
10	chr17:38634038..38637576-chr17:38640830..38643969,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000131746	Chromatin interaction
ENSG00000266088	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

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]
rs72819651	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72819659	1.00[AFR][1000 genomes]
rs72819661	1.00[AFR][1000 genomes]
rs72819664	1.00[AFR][1000 genomes]
rs72819665	1.00[AFR][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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38627400-38646200	Weak transcription	Gastric	stomach
2	chr17:38633400-38643800	Weak transcription	Right Ventricle	heart
3	chr17:38636000-38647000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr17:38636000-38648200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr17:38636000-38649600	Genic enhancers	HMEC	breast
6	chr17:38637000-38643400	Enhancers	K562	blood
7	chr17:38637000-38644800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr17:38637400-38645600	Weak transcription	Spleen	Spleen
9	chr17:38637400-38648200	Genic enhancers	NHEK	skin
10	chr17:38638200-38646400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr17:38638400-38643200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr17:38638600-38646200	Weak transcription	Colonic Mucosa	Colon
13	chr17:38638800-38646000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr17:38639200-38645000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr17:38639200-38645000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr17:38639200-38645400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr17:38639200-38645400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr17:38639400-38643200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr17:38639400-38644400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr17:38639400-38645400	Weak transcription	Primary B cells from cord blood	blood
21	chr17:38639600-38644200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr17:38639800-38643400	Enhancers	HepG2	liver
23	chr17:38639800-38644200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr17:38640000-38643200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr17:38640400-38643400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr17:38640800-38643400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr17:38640800-38644400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr17:38640800-38646400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr17:38641000-38645400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr17:38641000-38646600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr17:38641000-38648800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr17:38641200-38644200	Transcr. at gene 5' and 3'	A549	lung
33	chr17:38641200-38646200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr17:38641200-38646400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr17:38641400-38646200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr17:38641600-38643200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr17:38641600-38643200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr17:38641800-38643200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr17:38641800-38643200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr17:38641800-38643400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr17:38642000-38643000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr17:38642000-38643000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr17:38642000-38643000	Enhancers	Ovary	ovary
44	chr17:38642000-38643400	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr17:38642000-38643400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
46	chr17:38642000-38643600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr17:38642000-38645200	Genic enhancers	Placenta	Placenta
48	chr17:38642000-38647000	Enhancers	Colon Smooth Muscle	Colon
49	chr17:38642000-38647800	Enhancers	Fetal Stomach	stomach
50	chr17:38642000-38654400	Weak transcription	Duodenum Mucosa	Duodenum

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