Variant report

Variant	rs4802901
Chromosome Location	chr19:52695721-52695722
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:52641405..52644253-chr19:52691691..52696539,6	MCF-7	breast:
2	chr19:52692900..52696088-chr19:52702014..52707428,7	MCF-7	breast:
3	chr19:52521352..52523210-chr19:52695017..52697465,2	K562	blood:
4	chr19:52642060..52644482-chr19:52693480..52696819,3	K562	blood:
5	chr19:52693832..52696719-chr19:52708763..52711049,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105568	Chromatin interaction
ENSG00000204611	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10420138	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13346079	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3786487	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4802902	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4802903	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4802904	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6509627	0.80[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs8111131	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv1059417	chr19:52662380-52703801	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv2760529	chr19:52662380-52703813	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv21017	chr19:52692555-52696215	Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52694400-52695800	Enhancers	Sigmoid Colon	Sigmoid Colon
2	chr19:52694400-52696000	Flanking Active TSS	Duodenum Mucosa	Duodenum
3	chr19:52694400-52696200	Enhancers	Small Intestine	intestine
4	chr19:52694400-52710200	ZNF genes & repeats	A549	lung
5	chr19:52694600-52696000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:52694600-52696000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr19:52694600-52696000	Enhancers	Pancreas	Pancrea
8	chr19:52694600-52696400	Enhancers	Gastric	stomach
9	chr19:52694600-52696600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:52694600-52696600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr19:52694600-52697400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:52694600-52698000	Genic enhancers	Primary B cells from peripheral blood	blood
13	chr19:52694600-52702600	Weak transcription	Aorta	Aorta
14	chr19:52694600-52732800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr19:52694800-52695800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr19:52694800-52696000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr19:52694800-52696000	Genic enhancers	Fetal Muscle Trunk	muscle
18	chr19:52694800-52696000	Weak transcription	Lung	lung
19	chr19:52694800-52696200	Enhancers	Esophagus	oesophagus
20	chr19:52694800-52696600	Genic enhancers	Fetal Stomach	stomach
21	chr19:52694800-52698600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr19:52694800-52698600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr19:52695000-52695800	Enhancers	Primary B cells from cord blood	blood
24	chr19:52695000-52695800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr19:52695000-52695800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr19:52695000-52695800	Active TSS	GM12878-XiMat	blood
27	chr19:52695000-52696000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:52695000-52696000	Weak transcription	Thymus	Thymus
29	chr19:52695000-52696200	Enhancers	Adipose Nuclei	Adipose
30	chr19:52695000-52696200	Weak transcription	Placenta	Placenta
31	chr19:52695000-52696400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr19:52695000-52696600	Enhancers	Stomach Mucosa	stomach
33	chr19:52695000-52698400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr19:52695200-52695800	Enhancers	Liver	Liver
35	chr19:52695200-52695800	Enhancers	Rectal Smooth Muscle	rectum
36	chr19:52695200-52695800	Active TSS	Right Atrium	heart
37	chr19:52695200-52695800	Weak transcription	HMEC	breast
38	chr19:52695200-52696000	Enhancers	HepG2	liver
39	chr19:52695200-52696000	Weak transcription	HSMMtube	muscle
40	chr19:52695200-52696000	Weak transcription	Osteobl	bone
41	chr19:52695200-52696200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr19:52695200-52696200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr19:52695200-52696200	Enhancers	Primary T cells from cord blood	blood
44	chr19:52695200-52696200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr19:52695200-52696200	Weak transcription	Fetal Kidney	kidney
46	chr19:52695200-52696400	Enhancers	Fetal Heart	heart
47	chr19:52695200-52696400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr19:52695200-52696600	Enhancers	Brain Angular Gyrus	brain
49	chr19:52695200-52696600	Enhancers	Brain Anterior Caudate	brain
50	chr19:52695200-52696600	Enhancers	Brain Inferior Temporal Lobe	brain

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