Variant report

Variant	rs8182484
Chromosome Location	chr19:39162800-39162801
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39160838..39163402-chr19:39174691..39176835,2	MCF-7	breast:
2	chr19:39154116..39156228-chr19:39162782..39165101,2	K562	blood:
3	chr19:39149024..39154711-chr19:39158901..39163144,7	MCF-7	breast:
4	chr19:39161055..39163275-chr19:39172924..39175598,3	K562	blood:
5	chr19:39161163..39163302-chr19:39198153..39200836,2	K562	blood:

Variant related genes	Relation type
ENSG00000130402	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11553600	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12052046	1.00[ASN][1000 genomes]
rs17589415	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17665451	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41482151	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45468197	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4616403	1.00[ASN][1000 genomes]
rs4802744	1.00[ASN][1000 genomes]
rs4802747	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4802775	1.00[ASN][1000 genomes]
rs67438539	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67953948	1.00[ASN][1000 genomes]
rs7258742	1.00[ASN][1000 genomes]
rs73032668	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73032691	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73032697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73034621	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038909	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038918	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038924	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038930	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038932	0.90[EUR][1000 genomes]
rs73038936	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038948	1.00[ASN][1000 genomes]
rs7351086	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8103824	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs888995	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833826	chr19:38945106-39184547	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv833827	chr19:38993054-39184547	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv833828	chr19:39084759-39257979	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
5	nsv1057901	chr19:39112486-39174332	Genic enhancers Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39141200-39162800	Enhancers	Psoas Muscle	Psoas
2	chr19:39152600-39164000	Enhancers	Liver	Liver
3	chr19:39154000-39162800	Enhancers	Small Intestine	intestine
4	chr19:39154600-39163000	Enhancers	Right Atrium	heart
5	chr19:39154800-39163000	Genic enhancers	Fetal Intestine Small	intestine
6	chr19:39155000-39162800	Genic enhancers	Fetal Intestine Large	intestine
7	chr19:39155200-39162800	Enhancers	Brain Angular Gyrus	brain
8	chr19:39155200-39163800	Genic enhancers	NHEK	skin
9	chr19:39155400-39162800	Enhancers	Brain Hippocampus Middle	brain
10	chr19:39155400-39162800	Enhancers	Brain Substantia Nigra	brain
11	chr19:39156000-39162800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:39156400-39162800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr19:39156600-39164800	Enhancers	Fetal Heart	heart
14	chr19:39158000-39162800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr19:39158200-39162800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr19:39158200-39162800	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr19:39158600-39162800	Genic enhancers	Osteobl	bone
18	chr19:39158800-39162800	Enhancers	Adipose Nuclei	Adipose
19	chr19:39158800-39162800	Enhancers	Colon Smooth Muscle	Colon
20	chr19:39158800-39167600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr19:39159000-39165000	Weak transcription	Hela-S3	cervix
22	chr19:39159000-39166600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr19:39159000-39166800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr19:39159400-39162800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr19:39159600-39162800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr19:39159600-39162800	Enhancers	Aorta	Aorta
27	chr19:39159600-39162800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr19:39159600-39169600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr19:39160000-39162800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:39160000-39162800	Enhancers	Brain Cingulate Gyrus	brain
31	chr19:39160000-39162800	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr19:39160200-39162800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:39160400-39162800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr19:39160400-39162800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr19:39160400-39163000	Enhancers	Brain Anterior Caudate	brain
36	chr19:39160400-39163000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr19:39160400-39173400	Weak transcription	Brain Germinal Matrix	brain
38	chr19:39160600-39162800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr19:39160600-39162800	Enhancers	Stomach Mucosa	stomach
40	chr19:39160600-39162800	Enhancers	NH-A	brain
41	chr19:39160600-39165200	Weak transcription	Dnd41	blood
42	chr19:39160800-39163200	Enhancers	Ovary	ovary
43	chr19:39161000-39162800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr19:39161000-39162800	Enhancers	Primary hematopoietic stem cells	blood
45	chr19:39161000-39162800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr19:39161000-39162800	Enhancers	Colonic Mucosa	Colon
47	chr19:39161000-39162800	Enhancers	Rectal Smooth Muscle	rectum
48	chr19:39161000-39163000	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr19:39161000-39163000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:39161000-39163000	Enhancers	Pancreas	Pancrea

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