Variant report

Variant	rs4146923
Chromosome Location	chr2:191394715-191394716
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	SPI1	chr2:191394409-191395026	HL-60	blood:	n/a	chr2:191394635-191394648
2	SPI1	chr2:191394487-191394805	GM12891	blood:	n/a	chr2:191394635-191394648
3	FOS	chr2:191394688-191394924	MCF10A-Er-Src	breast:	n/a	n/a
4	EBF1	chr2:191394408-191394718	GM12878	blood:	n/a	n/a
5	SPI1	chr2:191394438-191394773	GM12878	blood:	n/a	chr2:191394635-191394648
6	FOS	chr2:191394679-191394879	MCF10A-Er-Src	breast:	n/a	n/a
7	EBF1	chr2:191394348-191394749	GM12878	blood:	n/a	n/a
8	MTA3	chr2:191394280-191394822	GM12878	blood:	n/a	n/a
9	STAT3	chr2:191394709-191394996	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:191393388..191396315-chr2:191446782..191449171,2	K562	blood:
2	chr2:191385869..191388991-chr2:191394619..191398567,3	K562	blood:
3	chr2:191393746..191397306-chr2:191397440..191402907,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233654	TF binding region
TMEM194B	TF binding region
ENSG00000189362	Chromatin interaction
ENSG00000233654	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10165897	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10209172	0.98[ASN][1000 genomes]
rs12478437	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12693578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392968	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4129697	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4438514	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4500977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4586658	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4853708	0.95[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7584794	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585173	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4146923	FLJ20160	Cis_1M	lymphoblastoid	RTeQTL
rs4146923	INPP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191334800-191394800	Weak transcription	HSMMtube	muscle
2	chr2:191357200-191398200	Weak transcription	Fetal Kidney	kidney
3	chr2:191362800-191398200	Weak transcription	Fetal Brain Male	brain
4	chr2:191365200-191398000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:191365800-191397400	Weak transcription	Liver	Liver
6	chr2:191375200-191398600	Weak transcription	Ovary	ovary
7	chr2:191376000-191397800	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:191378400-191394800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:191379400-191397800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:191379400-191398200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:191382600-191398400	Weak transcription	Psoas Muscle	Psoas
12	chr2:191383400-191394800	Weak transcription	NHDF-Ad	bronchial
13	chr2:191385400-191397200	Weak transcription	Thymus	Thymus
14	chr2:191385600-191396000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:191386200-191394800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:191387400-191398600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:191390400-191395800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:191390800-191394800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr2:191390800-191397400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr2:191391000-191397200	Enhancers	Primary T cells from cord blood	blood
21	chr2:191391200-191398400	Weak transcription	Small Intestine	intestine
22	chr2:191391200-191398600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:191392400-191395600	Enhancers	Hela-S3	cervix
24	chr2:191392400-191396000	Enhancers	HepG2	liver
25	chr2:191392400-191397000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:191392600-191397000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr2:191392600-191397400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:191392800-191396200	Enhancers	Fetal Intestine Large	intestine
29	chr2:191392800-191396400	Enhancers	K562	blood
30	chr2:191393000-191395600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:191393000-191395600	Enhancers	Placenta	Placenta
32	chr2:191393000-191395800	Enhancers	Primary B cells from cord blood	blood
33	chr2:191393000-191395800	Enhancers	Stomach Mucosa	stomach
34	chr2:191393000-191396200	Enhancers	Fetal Intestine Small	intestine
35	chr2:191393000-191397800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr2:191393200-191394800	Enhancers	GM12878-XiMat	blood
37	chr2:191393200-191395600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:191393200-191396200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:191393200-191398000	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr2:191393200-191398200	Enhancers	Primary hematopoietic stem cells	blood
41	chr2:191393200-191398600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:191393400-191395000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr2:191393400-191398600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:191393400-191398600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr2:191393400-191398600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:191393600-191398400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:191393600-191398600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr2:191393800-191394800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:191393800-191394800	Enhancers	Esophagus	oesophagus
50	chr2:191393800-191398400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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