Variant report

Variant	rs16979372
Chromosome Location	chr19:45195313-45195314
allele	G/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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45178714..45181113-chr19:45193983..45195576,2	MCF-7	breast:
2	chr19:45188654..45190939-chr19:45193804..45196138,2	K562	blood:
3	chr19:45192588..45195517-chr19:45250101..45253474,5	MCF-7	breast:
4	chr19:45193090..45195982-chr19:45196210..45199723,4	MCF-7	breast:
5	chr19:45193034..45198920-chr19:45224756..45231512,9	MCF-7	breast:
6	chr19:45193665..45201150-chr19:45248511..45253202,11	MCF-7	breast:
7	chr19:45195121..45197264-chr19:45199908..45201765,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CEACAM16-2	chr19:45195051-45196353	NONHSAT066710

No data

Variant related genes	Relation type
ENSG00000252200	Chromatin interaction
ENSG00000069399	Chromatin interaction
ENSG00000186567	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10422568	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11673139	1.00[CHB][hapmap]
rs2927478	1.00[CHB][hapmap]
rs2967671	1.00[CHB][hapmap]
rs62119261	1.00[ASN][1000 genomes]
rs62119267	1.00[ASN][1000 genomes]
rs62119319	1.00[ASN][1000 genomes]
rs62119320	1.00[ASN][1000 genomes]
rs62119321	1.00[ASN][1000 genomes]
rs62119322	1.00[ASN][1000 genomes]
rs62119325	1.00[ASN][1000 genomes]
rs62119327	1.00[ASN][1000 genomes]
rs62119328	1.00[ASN][1000 genomes]
rs62119330	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62120566	1.00[ASN][1000 genomes]
rs7249750	1.00[CHB][hapmap]
rs73048224	1.00[ASN][1000 genomes]
rs73048230	1.00[ASN][1000 genomes]
rs8104660	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs899087	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062812	chr19:45042262-45214796	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats 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	20 gene(s)	inside rSNPs	diseases
2	nsv912116	chr19:45146103-45298069	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv9737	chr19:45178110-45206629	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45166000-45197400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr19:45181600-45198800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:45188400-45195400	Weak transcription	Fetal Heart	heart
4	chr19:45192400-45202000	Enhancers	Liver	Liver
5	chr19:45193000-45195600	Weak transcription	Right Ventricle	heart
6	chr19:45193000-45200200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr19:45193000-45200600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr19:45193400-45195400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:45193600-45197600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr19:45194400-45196200	Enhancers	Primary B cells from peripheral blood	blood
11	chr19:45194400-45196400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:45194600-45196200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr19:45194600-45196400	Enhancers	Primary hematopoietic stem cells	blood
14	chr19:45194600-45196400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:45194600-45196600	Enhancers	Primary T cells fromperipheralblood	blood
16	chr19:45194800-45195400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr19:45194800-45195400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr19:45194800-45195400	Enhancers	Colonic Mucosa	Colon
19	chr19:45194800-45195600	Enhancers	Fetal Muscle Trunk	muscle
20	chr19:45194800-45195800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr19:45194800-45195800	Enhancers	Lung	lung
22	chr19:45194800-45196000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr19:45194800-45196200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:45194800-45196200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr19:45194800-45196200	Enhancers	Stomach Mucosa	stomach
26	chr19:45194800-45196200	Flanking Active TSS	A549	lung
27	chr19:45194800-45196400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr19:45194800-45196600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr19:45194800-45196600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr19:45194800-45196600	Enhancers	Duodenum Mucosa	Duodenum
31	chr19:45194800-45196600	Enhancers	HUVEC	blood vessel
32	chr19:45194800-45196800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr19:45194800-45198000	Enhancers	Spleen	Spleen
34	chr19:45194800-45199600	Enhancers	Fetal Intestine Large	intestine
35	chr19:45195000-45195400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr19:45195000-45195400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr19:45195000-45195400	Enhancers	Fetal Kidney	kidney
38	chr19:45195000-45195400	Enhancers	Gastric	stomach
39	chr19:45195000-45195400	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr19:45195000-45195600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr19:45195000-45195600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:45195000-45195600	Enhancers	Esophagus	oesophagus
43	chr19:45195000-45195600	Flanking Active TSS	HepG2	liver
44	chr19:45195000-45195600	Enhancers	K562	blood
45	chr19:45195000-45195600	Enhancers	NHLF	lung
46	chr19:45195000-45195800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr19:45195000-45195800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr19:45195000-45195800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr19:45195000-45195800	Flanking Active TSS	GM12878-XiMat	blood
50	chr19:45195000-45195800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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