Variant report

Variant	rs13020796
Chromosome Location	chr2:173990421-173990422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173938392..173941767-chr2:173987528..173992085,5	MCF-7	breast:
2	chr2:173988691..173991779-chr2:173993829..173996976,3	K562	blood:
3	chr2:173989210..173991573-chr2:173993201..173996190,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12998711	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13017210	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13022800	0.82[ASN][1000 genomes]
rs13029949	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16861272	0.82[ASN][1000 genomes]
rs17761169	0.84[ASN][1000 genomes]
rs2278883	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34014656	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34658268	0.82[ASN][1000 genomes]
rs34681024	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34862313	0.84[EUR][1000 genomes]
rs36103648	0.80[EUR][1000 genomes]
rs3754743	0.82[EUR][1000 genomes]
rs3754744	0.81[EUR][1000 genomes]
rs3769192	0.85[ASN][1000 genomes]
rs3769203	0.82[ASN][1000 genomes]
rs4280429	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6433395	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6741675	0.82[ASN][1000 genomes]
rs67422536	0.82[ASN][1000 genomes]
rs67683956	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71417423	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72905046	0.81[EUR][1000 genomes];0.82[ASN][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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv834461	chr2:173979734-174038471	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173945400-173991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:173953800-173991400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:173968600-173990600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:173974400-174005200	Weak transcription	Fetal Intestine Small	intestine
5	chr2:173974800-173991400	Weak transcription	K562	blood
6	chr2:173978200-173995200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:173981000-174000800	Weak transcription	Fetal Thymus	thymus
8	chr2:173982800-174006400	Weak transcription	Fetal Lung	lung
9	chr2:173984200-174000200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:173984400-173994200	Weak transcription	Gastric	stomach
11	chr2:173984400-173994600	Weak transcription	Pancreas	Pancrea
12	chr2:173984600-173994800	Weak transcription	Liver	Liver
13	chr2:173984600-173995400	Weak transcription	Fetal Stomach	stomach
14	chr2:173984800-173991400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:173985200-173995400	Weak transcription	Adipose Nuclei	Adipose
16	chr2:173985400-173995400	Weak transcription	Ovary	ovary
17	chr2:173986000-173995000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:173986200-173997200	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:173986800-173995200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:173987600-173992000	Enhancers	HMEC	breast
21	chr2:173988000-173991400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:173988000-173999200	Weak transcription	Dnd41	blood
23	chr2:173988200-174004600	Weak transcription	Fetal Intestine Large	intestine
24	chr2:173989200-173991400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr2:173989200-174006000	Weak transcription	Primary B cells from cord blood	blood
26	chr2:173989600-173990800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:173989600-173991400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:173989600-173991400	Weak transcription	Spleen	Spleen
29	chr2:173989600-173991400	Weak transcription	NH-A	brain
30	chr2:173989600-173992400	Weak transcription	Lung	lung
31	chr2:173989600-173995400	Weak transcription	Aorta	Aorta
32	chr2:173989600-173995400	Weak transcription	Psoas Muscle	Psoas
33	chr2:173989600-174003800	Weak transcription	Right Ventricle	heart
34	chr2:173989600-174007600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:173989800-173991200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:173989800-173991200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:173989800-173991400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:173989800-173991400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:173989800-173991400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:173989800-173991400	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:173989800-173991400	Weak transcription	HSMM	muscle
42	chr2:173989800-173991400	Weak transcription	Osteobl	bone
43	chr2:173989800-173993200	Weak transcription	Esophagus	oesophagus
44	chr2:173989800-173994000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:173989800-173995200	Weak transcription	NHLF	lung
46	chr2:173989800-173995400	Weak transcription	Left Ventricle	heart
47	chr2:173989800-173995400	Weak transcription	Right Atrium	heart
48	chr2:173990000-173991400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:173990000-173991400	Weak transcription	NHDF-Ad	bronchial
50	chr2:173990000-173994200	Weak transcription	Fetal Heart	heart

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