Variant report

Variant	rs34830633
Chromosome Location	chr19:45196935-45196936
allele	A/G
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45195823..45197578-chr19:45220887..45222475,2	MCF-7	breast:
2	chr19:45196570..45199632-chr19:45349438..45352432,3	MCF-7	breast:
3	chr19:45193090..45195982-chr19:45196210..45199723,4	MCF-7	breast:
4	chr19:45196701..45201693-chr19:45202936..45207565,9	K562	blood:
5	chr19:45192349..45194875-chr19:45196468..45199785,3	K562	blood:
6	chr19:45196176..45200462-chr19:45270253..45272839,3	K562	blood:
7	chr19:45195689..45197488-chr19:45256706..45258285,2	MCF-7	breast:
8	chr19:45193034..45198920-chr19:45224756..45231512,9	MCF-7	breast:
9	chr19:45196825..45199770-chr19:45225839..45228491,3	MCF-7	breast:
10	chr19:45188830..45190477-chr19:45195576..45198306,2	K562	blood:
11	chr19:45193665..45201150-chr19:45248511..45253202,11	MCF-7	breast:
12	chr19:45189167..45190891-chr19:45195499..45197736,2	MCF-7	breast:
13	chr19:45195121..45197264-chr19:45199908..45201765,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213892	Chromatin interaction
ENSG00000266903	Chromatin interaction
ENSG00000130202	Chromatin interaction
ENSG00000069399	Chromatin interaction
ENSG00000252200	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12977854	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1972911	0.92[ASN][1000 genomes]
rs35401363	0.89[EUR][1000 genomes]
rs4803741	0.82[EUR][1000 genomes]
rs62120564	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]

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:52 , 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	chr19:45192400-45202000	Enhancers	Liver	Liver
4	chr19:45193000-45200200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr19:45193000-45200600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr19:45193600-45197600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr19:45194800-45198000	Enhancers	Spleen	Spleen
8	chr19:45194800-45199600	Enhancers	Fetal Intestine Large	intestine
9	chr19:45195000-45200600	Enhancers	Fetal Intestine Small	intestine
10	chr19:45195000-45202200	Enhancers	Pancreas	Pancrea
11	chr19:45195400-45197200	Weak transcription	Colonic Mucosa	Colon
12	chr19:45195400-45197400	Weak transcription	Gastric	stomach
13	chr19:45195600-45197200	Weak transcription	K562	blood
14	chr19:45195600-45197400	Enhancers	HepG2	liver
15	chr19:45195600-45198600	Weak transcription	Esophagus	oesophagus
16	chr19:45195600-45198800	Weak transcription	Placenta	Placenta
17	chr19:45195600-45200800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr19:45195800-45197200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr19:45195800-45197400	Weak transcription	Left Ventricle	heart
20	chr19:45195800-45197600	Enhancers	GM12878-XiMat	blood
21	chr19:45195800-45197800	Weak transcription	Lung	lung
22	chr19:45195800-45198200	Weak transcription	Small Intestine	intestine
23	chr19:45195800-45198800	Weak transcription	Right Atrium	heart
24	chr19:45195800-45200400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr19:45195800-45200400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr19:45195800-45200400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr19:45195800-45200400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:45195800-45203000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr19:45196000-45198400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr19:45196200-45197200	Weak transcription	Stomach Mucosa	stomach
31	chr19:45196200-45197400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:45196200-45197400	Enhancers	A549	lung
33	chr19:45196200-45198200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr19:45196200-45198600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr19:45196200-45202800	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr19:45196400-45197400	Weak transcription	Hela-S3	cervix
37	chr19:45196400-45197600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr19:45196400-45197800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:45196400-45198000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:45196400-45198000	Weak transcription	NHEK	skin
41	chr19:45196400-45198600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:45196400-45198600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr19:45196400-45200000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr19:45196400-45200400	Weak transcription	Fetal Heart	heart
45	chr19:45196400-45200400	Weak transcription	Right Ventricle	heart
46	chr19:45196600-45197000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr19:45196600-45198600	Weak transcription	HUVEC	blood vessel
48	chr19:45196600-45198600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr19:45196600-45199000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr19:45196800-45197200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links