Variant report

Variant	rs999837
Chromosome Location	chr2:171825673-171825674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171824301..171825949-chr2:172284525..172287189,2	K562	blood:
2	chr2:171823033..171825275-chr2:171825625..171831472,9	K562	blood:
3	chr2:171783032..171788275-chr2:171824950..171831826,10	K562	blood:
4	chr2:171784385..171789962-chr2:171821380..171827816,10	K562	blood:
5	chr2:171821806..171826115-chr2:171826992..171831099,6	MCF-7	breast:
6	chr2:171824245..171828535-chr2:172013886..172017505,3	MCF-7	breast:
7	chr2:171823624..171825734-chr2:172290052..172291756,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115806	Chromatin interaction
ENSG00000198586	Chromatin interaction
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1035839	0.95[EUR][1000 genomes]
rs13017649	0.93[EUR][1000 genomes]
rs13028361	0.93[EUR][1000 genomes]
rs2676139	0.95[EUR][1000 genomes]
rs2676143	0.93[EUR][1000 genomes]
rs2676145	0.93[EUR][1000 genomes]
rs2676158	0.91[EUR][1000 genomes]
rs2723253	0.93[EUR][1000 genomes]
rs4668353	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4668356	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56191582	0.81[EUR][1000 genomes]
rs6711510	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6743095	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6746413	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6753513	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7608813	0.91[EUR][1000 genomes]
rs966181	0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr2:171787600-171829800	Weak transcription	Right Atrium	heart
2	chr2:171797000-171830600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:171804800-171825800	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:171805400-171825800	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:171805400-171825800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:171805600-171825800	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr2:171805800-171825800	Strong transcription	Placenta	Placenta
8	chr2:171805800-171825800	Strong transcription	Osteobl	bone
9	chr2:171805800-171826200	Strong transcription	Fetal Thymus	thymus
10	chr2:171806000-171825800	Strong transcription	Duodenum Mucosa	Duodenum
11	chr2:171806000-171826000	Strong transcription	Fetal Stomach	stomach
12	chr2:171806000-171826200	Strong transcription	Fetal Intestine Large	intestine
13	chr2:171806000-171826200	Strong transcription	Thymus	Thymus
14	chr2:171806000-171826800	Strong transcription	Fetal Muscle Leg	muscle
15	chr2:171809200-171826200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:171811400-171830200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:171814600-171829400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:171815600-171825800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr2:171816800-171825800	Strong transcription	Primary T cells from cord blood	blood
20	chr2:171816800-171825800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:171817200-171826000	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:171817600-171826000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:171817800-171825800	Strong transcription	Fetal Intestine Small	intestine
24	chr2:171818000-171825800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:171818000-171826000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:171818400-171829000	Weak transcription	Fetal Brain Male	brain
27	chr2:171819600-171829200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:171820200-171827000	Strong transcription	Placenta Amnion	Placenta Amnion
29	chr2:171821400-171825800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:171821600-171825800	Strong transcription	Aorta	Aorta
31	chr2:171822200-171829600	Weak transcription	Fetal Heart	heart
32	chr2:171822400-171826200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:171822600-171825800	Strong transcription	Stomach Smooth Muscle	stomach
34	chr2:171822600-171825800	Strong transcription	HSMM	muscle
35	chr2:171822600-171826000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:171822600-171826000	Strong transcription	Lung	lung
37	chr2:171822600-171829800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:171822600-171830200	Weak transcription	Stomach Mucosa	stomach
39	chr2:171823000-171829800	Weak transcription	Right Ventricle	heart
40	chr2:171823200-171826000	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr2:171823200-171829000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr2:171823200-171830200	Weak transcription	Small Intestine	intestine
43	chr2:171823600-171826200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:171823600-171829000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:171823600-171829200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr2:171823600-171829400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr2:171823800-171825800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:171823800-171826400	Weak transcription	Spleen	Spleen
49	chr2:171823800-171827000	Enhancers	Liver	Liver
50	chr2:171823800-171827600	Strong transcription	NHEK	skin

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