Variant report

Variant	rs73937434
Chromosome Location	chr19:52695232-52695233
allele	A/G
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	chr19:52641479..52644491-chr19:52690575..52695402,7	MCF-7	breast:
4	chr19:52521352..52523210-chr19:52695017..52697465,2	K562	blood:
5	chr19:52642060..52644482-chr19:52693480..52696819,3	K562	blood:
6	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: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1025279	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10405293	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10405856	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10405862	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10407987	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10413274	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10413470	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10413847	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10416195	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10422583	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10423610	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10423794	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10424348	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10425393	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10426066	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13344984	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16983548	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16983549	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16983557	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1984750	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61435553	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7253157	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73935026	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8101364	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8103874	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8107377	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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	chr19:52692000-52695400	Active TSS	Left Ventricle	heart
2	chr19:52692400-52695400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr19:52694200-52695400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr19:52694200-52695400	Flanking Active TSS	Brain Germinal Matrix	brain
5	chr19:52694200-52695400	Flanking Active TSS	Brain Substantia Nigra	brain
6	chr19:52694200-52695400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr19:52694200-52695400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr19:52694200-52695600	Flanking Active TSS	Brain Cingulate Gyrus	brain
9	chr19:52694200-52695600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr19:52694200-52695600	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr19:52694400-52695400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr19:52694400-52695400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr19:52694400-52695400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:52694400-52695400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
15	chr19:52694400-52695400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr19:52694400-52695400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:52694400-52695400	Flanking Active TSS	Colon Smooth Muscle	Colon
18	chr19:52694400-52695400	Flanking Active TSS	Fetal Brain Female	brain
19	chr19:52694400-52695400	Flanking Active TSS	Psoas Muscle	Psoas
20	chr19:52694400-52695400	Flanking Active TSS	Right Ventricle	heart
21	chr19:52694400-52695400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr19:52694400-52695400	Transcr. at gene 5' and 3'	Dnd41	blood
23	chr19:52694400-52695400	Flanking Active TSS	NHEK	skin
24	chr19:52694400-52695400	Transcr. at gene 5' and 3'	NHLF	lung
25	chr19:52694400-52695600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr19:52694400-52695800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr19:52694400-52696000	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr19:52694400-52696200	Enhancers	Small Intestine	intestine
29	chr19:52694400-52710200	ZNF genes & repeats	A549	lung
30	chr19:52694600-52695400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
31	chr19:52694600-52695400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr19:52694600-52695400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr19:52694600-52695400	Transcr. at gene 5' and 3'	K562	blood
34	chr19:52694600-52695600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr19:52694600-52695600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:52694600-52695600	Enhancers	Spleen	Spleen
37	chr19:52694600-52696000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:52694600-52696000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:52694600-52696000	Enhancers	Pancreas	Pancrea
40	chr19:52694600-52696400	Enhancers	Gastric	stomach
41	chr19:52694600-52696600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr19:52694600-52696600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:52694600-52697400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr19:52694600-52698000	Genic enhancers	Primary B cells from peripheral blood	blood
45	chr19:52694600-52702600	Weak transcription	Aorta	Aorta
46	chr19:52694600-52732800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr19:52694800-52695400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:52694800-52695400	Enhancers	Colonic Mucosa	Colon
49	chr19:52694800-52695600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
50	chr19:52694800-52695600	Enhancers	Primary T cells fromperipheralblood	blood

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