Variant report

Variant	rs291408
Chromosome Location	chr2:191120620-191120621
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr2:191120504-191120735	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr2:191120547-191120733	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191120109..191122683-chr2:191126215..191128270,2	K562	blood:

Variant related genes	Relation type
HIBCH	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10168769	0.89[ASN][1000 genomes]
rs10182490	0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs10192319	0.89[ASN][1000 genomes]
rs10196444	0.83[ASN][1000 genomes]
rs10199308	0.89[ASN][1000 genomes]
rs10204936	0.88[ASN][1000 genomes]
rs11900898	0.89[ASN][1000 genomes]
rs13406328	0.86[ASN][1000 genomes]
rs13414825	0.89[ASN][1000 genomes]
rs1366676	1.00[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs1595997	0.89[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs16832459	0.89[ASN][1000 genomes]
rs2119463	0.90[ASN][1000 genomes]
rs2119464	0.85[ASN][1000 genomes]
rs2195466	0.90[ASN][1000 genomes]
rs2582734	0.95[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2582741	0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2582756	0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2582768	0.85[ASN][1000 genomes]
rs2664250	0.85[ASN][1000 genomes]
rs2664254	0.85[ASN][1000 genomes]
rs2664257	0.85[ASN][1000 genomes]
rs291406	1.00[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs291416	1.00[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs291417	0.90[ASN][1000 genomes]
rs291433	0.85[ASN][1000 genomes]
rs291443	0.84[ASN][1000 genomes]
rs291454	0.85[ASN][1000 genomes]
rs291465	0.82[JPT][hapmap]
rs2966469	0.84[ASN][1000 genomes]
rs61248221	0.93[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	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv875620	chr2:191100723-191141593	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv875621	chr2:191117120-191177131	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191056800-191124600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:191056800-191131800	Weak transcription	NHEK	skin
3	chr2:191060800-191180000	Weak transcription	Small Intestine	intestine
4	chr2:191089000-191128800	Weak transcription	Gastric	stomach
5	chr2:191099400-191131800	Weak transcription	HMEC	breast
6	chr2:191100000-191122400	Weak transcription	Colonic Mucosa	Colon
7	chr2:191100000-191150400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:191100400-191128000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:191104400-191151000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:191105000-191180000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:191106200-191132200	Weak transcription	Hela-S3	cervix
12	chr2:191106600-191131800	Weak transcription	NHLF	lung
13	chr2:191107000-191122400	Strong transcription	Primary B cells from cord blood	blood
14	chr2:191107400-191122800	Weak transcription	HSMMtube	muscle
15	chr2:191107400-191150600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:191107800-191125600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:191108000-191129400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:191108200-191122400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:191108200-191129200	Weak transcription	Spleen	Spleen
20	chr2:191108200-191135400	Weak transcription	Right Ventricle	heart
21	chr2:191108200-191180000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:191108800-191124600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:191109000-191122400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:191109600-191122200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:191109600-191122400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:191109600-191122400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:191109600-191122400	Weak transcription	Fetal Brain Male	brain
28	chr2:191109600-191122400	Weak transcription	Lung	lung
29	chr2:191109600-191122400	Weak transcription	Thymus	Thymus
30	chr2:191109600-191123200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:191109600-191124000	Weak transcription	Esophagus	oesophagus
32	chr2:191109600-191126600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr2:191109600-191128000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:191109600-191135800	Weak transcription	Fetal Brain Female	brain
35	chr2:191109800-191121600	Weak transcription	A549	lung
36	chr2:191109800-191122400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:191109800-191122400	Weak transcription	Placenta	Placenta
38	chr2:191109800-191122400	Weak transcription	Osteobl	bone
39	chr2:191109800-191132800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr2:191109800-191163000	Weak transcription	Brain Germinal Matrix	brain
41	chr2:191110000-191122400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:191110000-191145400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:191110800-191121600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:191111200-191121600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:191111200-191124400	Strong transcription	Primary T cells from cord blood	blood
46	chr2:191112800-191121000	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr2:191112800-191126000	Strong transcription	Dnd41	blood
48	chr2:191113400-191122400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:191113600-191122400	Weak transcription	Fetal Intestine Small	intestine
50	chr2:191114800-191124200	Strong transcription	Primary B cells from peripheral blood	blood

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