Variant report

Variant	rs2886194
Chromosome Location	chr2:178213642-178213643
allele	A/G
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	PML	chr2:178213208-178214153	GM12878	blood:	n/a	n/a
2	RXRA	chr2:178213600-178213963	HepG2	liver:	n/a	chr2:178213788-178213801 chr2:178213789-178213800
3	RFX5	chr2:178213315-178213755	HepG2	liver:	n/a	n/a
4	MTA3	chr2:178213251-178214199	GM12878	blood:	n/a	n/a
5	RUNX3	chr2:178213529-178214018	GM12878	blood:	n/a	n/a
6	FOXA1	chr2:178213268-178213765	HepG2	liver:	n/a	n/a
7	FOXA2	chr2:178213308-178213672	HepG2	liver:	n/a	n/a
8	BATF	chr2:178213576-178213931	GM12878	blood:	n/a	n/a
9	FOXA1	chr2:178213221-178213729	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178206491..178209645-chr2:178210919..178214374,3	K562	blood:

Variant related genes	Relation type
ENSG00000238295	TF binding region
ENSG00000237178	Chromatin interaction

rs_ID	r²[population]
rs10176724	0.91[CEU][hapmap]
rs10180514	1.00[CEU][hapmap]
rs10184488	1.00[CEU][hapmap]
rs10190306	1.00[CEU][hapmap]
rs10194452	1.00[CEU][hapmap]
rs10497504	0.86[CEU][hapmap]
rs10497505	1.00[CEU][hapmap]
rs10497506	1.00[CEU][hapmap]
rs10497509	1.00[CEU][hapmap]
rs10754987	1.00[CEU][hapmap]
rs10754988	1.00[CEU][hapmap]
rs10803911	1.00[CEU][hapmap]
rs10803912	0.84[CEU][hapmap]
rs10930788	0.92[CEU][hapmap]
rs10930790	1.00[CEU][hapmap]
rs10930793	1.00[CEU][hapmap]
rs10930796	0.92[CEU][hapmap]
rs12468046	1.00[CEU][hapmap]
rs12478545	1.00[CEU][hapmap]
rs12621156	1.00[CEU][hapmap]
rs12623239	1.00[JPT][hapmap]
rs12693121	1.00[CEU][hapmap]
rs13001890	1.00[JPT][hapmap]
rs13007779	1.00[CEU][hapmap]
rs13017003	1.00[JPT][hapmap]
rs13410559	1.00[JPT][hapmap]
rs1345138	0.86[CEU][hapmap]
rs1349762	1.00[CEU][hapmap]
rs1374438	0.86[CEU][hapmap]
rs1446837	0.91[CEU][hapmap]
rs1446838	0.92[CEU][hapmap]
rs1453369	1.00[CEU][hapmap]
rs1530965	1.00[CEU][hapmap]
rs1545363	1.00[CEU][hapmap]
rs17326999	1.00[CEU][hapmap]
rs17398864	1.00[CEU][hapmap]
rs1867905	0.86[CEU][hapmap]
rs1901823	1.00[CEU][hapmap]
rs2084967	1.00[CEU][hapmap]
rs2123641	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2123643	1.00[CEU][hapmap]
rs2167902	1.00[CEU][hapmap]
rs2167903	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2178017	0.84[CEU][hapmap]
rs2218575	0.86[CEU][hapmap]
rs2293475	0.84[CEU][hapmap]
rs2364846	1.00[CEU][hapmap]
rs2364849	1.00[CEU][hapmap]
rs2364851	1.00[CEU][hapmap]
rs2364852	1.00[CEU][hapmap]
rs3754989	1.00[CEU][hapmap]
rs3813260	1.00[CEU][hapmap]
rs4144278	0.86[CEU][hapmap]
rs4243389	0.86[CEU][hapmap]
rs4350784	1.00[CEU][hapmap]
rs4402804	1.00[CEU][hapmap]
rs4585065	1.00[CEU][hapmap]
rs4893826	1.00[CEU][hapmap]
rs4893827	1.00[CEU][hapmap]
rs4893829	0.84[CEU][hapmap]
rs4893940	1.00[CEU][hapmap]
rs4893942	1.00[CEU][hapmap]
rs4893955	0.91[CEU][hapmap]
rs4893956	0.86[CEU][hapmap]
rs6433666	1.00[CEU][hapmap]
rs6433672	0.84[CEU][hapmap]
rs6433674	1.00[CEU][hapmap]
rs6433676	1.00[CEU][hapmap]
rs6433677	1.00[CEU][hapmap]
rs6710109	0.86[CEU][hapmap]
rs6715365	1.00[CEU][hapmap]
rs6720483	1.00[CEU][hapmap]
rs6721168	1.00[CEU][hapmap]
rs6723014	0.86[CEU][hapmap]
rs6725331	1.00[CEU][hapmap]
rs6732250	1.00[CEU][hapmap]
rs6740092	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs6744488	1.00[CEU][hapmap]
rs6754660	1.00[CEU][hapmap]
rs7570297	1.00[CEU][hapmap]
rs7582179	0.92[CEU][hapmap]
rs7585952	1.00[CEU][hapmap]
rs7588049	0.84[CEU][hapmap]
rs7589927	1.00[CEU][hapmap]
rs7594073	0.91[CEU][hapmap]
rs7601132	1.00[CEU][hapmap]
rs7604299	1.00[CEU][hapmap]
rs7604668	1.00[CEU][hapmap]
rs7608135	1.00[CEU][hapmap]
rs9288001	1.00[CEU][hapmap]
rs935426	0.86[CEU][hapmap]

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3051	chr2:178193436-178239394	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178187600-178216400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:178187800-178216400	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:178197200-178215000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:178197200-178216800	Weak transcription	Primary T cells from cord blood	blood
5	chr2:178197200-178217600	Weak transcription	Primary B cells from cord blood	blood
6	chr2:178197600-178217200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:178197800-178214000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:178197800-178215400	Weak transcription	Dnd41	blood
9	chr2:178199000-178214400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr2:178202200-178217400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:178203200-178216400	Weak transcription	HSMMtube	muscle
12	chr2:178203200-178217800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:178203400-178215000	Weak transcription	Adipose Nuclei	Adipose
14	chr2:178203400-178216000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:178203400-178216000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:178203400-178217000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:178203400-178244400	Weak transcription	HSMM	muscle
18	chr2:178203800-178214000	Weak transcription	K562	blood
19	chr2:178203800-178221600	Weak transcription	A549	lung
20	chr2:178208800-178214200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:178210400-178214600	Weak transcription	Fetal Brain Male	brain
22	chr2:178210600-178218000	Enhancers	HepG2	liver
23	chr2:178211200-178214400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:178211800-178214000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:178211800-178214200	Enhancers	Brain Hippocampus Middle	brain
26	chr2:178211800-178217400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr2:178212000-178213800	Enhancers	Brain Cingulate Gyrus	brain
28	chr2:178212000-178214200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:178212000-178214200	Enhancers	Brain Substantia Nigra	brain
30	chr2:178212000-178224400	Weak transcription	Fetal Heart	heart
31	chr2:178212200-178215200	Weak transcription	Fetal Intestine Small	intestine
32	chr2:178212600-178218000	Enhancers	Colon Smooth Muscle	Colon
33	chr2:178213000-178217400	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr2:178213200-178213800	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr2:178213400-178213800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:178213400-178213800	Enhancers	Fetal Kidney	kidney
37	chr2:178213400-178214400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:178213400-178214400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:178213400-178214400	Enhancers	Rectal Smooth Muscle	rectum
40	chr2:178213400-178217400	Enhancers	Primary hematopoietic stem cells	blood
41	chr2:178213400-178217400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:178213600-178213800	Enhancers	Spleen	Spleen
43	chr2:178213600-178214200	Enhancers	GM12878-XiMat	blood
44	chr2:178213600-178214400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:178213600-178214400	Enhancers	Brain Angular Gyrus	brain
46	chr2:178213600-178214400	Enhancers	Gastric	stomach
47	chr2:178213600-178214400	Enhancers	Ovary	ovary
48	chr2:178213600-178214400	Enhancers	Right Atrium	heart
49	chr2:178213600-178214800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:178213600-178215400	Enhancers	Brain Inferior Temporal Lobe	brain

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