Variant report

Variant	rs60058629
Chromosome Location	chr2:211307560-211307561
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	E2F6	chr2:211307375-211307989	H1-hESC	embryonic stem cell:	n/a	n/a
2	TCF12	chr2:211307466-211307897	H1-hESC	embryonic stem cell:	n/a	n/a
3	TCF12	chr2:211307442-211307990	H1-hESC	embryonic stem cell:	n/a	n/a
4	SPI1	chr2:211307179-211307573	HL-60	blood:	n/a	n/a
5	SPI1	chr2:211307140-211307593	HL-60	blood:	n/a	n/a
6	E2F6	chr2:211307470-211307867	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr2:211307448-211307870	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr2:211307483-211307865	H1-hESC	embryonic stem cell:	n/a	n/a
9	SPI1	chr2:211307009-211308035	GM12878	blood:	n/a	chr2:211307976-211307989
10	SP1	chr2:211307421-211307796	H1-hESC	embryonic stem cell:	n/a	n/a
11	EP300	chr2:211307411-211307940	H1-hESC	embryonic stem cell:	n/a	n/a
12	JUND	chr2:211307516-211307749	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
LANCL1	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs57954554	1.00[AMR][1000 genomes]
rs58196028	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73986164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73986165	1.00[AMR][1000 genomes]
rs73986166	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1012567	chr2:211087588-211315554	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv875767	chr2:211119233-211334647	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv3147	chr2:211281479-211326844	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211292400-211323000	Weak transcription	Fetal Brain Male	brain
2	chr2:211293200-211307800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:211293200-211311600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:211293800-211335400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:211294800-211322200	Weak transcription	K562	blood
6	chr2:211294800-211333200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:211295000-211330400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:211295000-211336000	Weak transcription	Colonic Mucosa	Colon
9	chr2:211295000-211340600	Weak transcription	HUVEC	blood vessel
10	chr2:211295400-211309200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:211295600-211307800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:211295600-211308000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr2:211295800-211307600	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:211296000-211307600	Strong transcription	Primary B cells from cord blood	blood
15	chr2:211296000-211309000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:211296000-211340200	Weak transcription	Small Intestine	intestine
17	chr2:211296400-211309200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:211296400-211341000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr2:211297400-211309000	Strong transcription	Brain Angular Gyrus	brain
20	chr2:211297400-211321400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:211297800-211336200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:211299400-211322600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:211299600-211322400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:211299800-211318600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:211299800-211330000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:211300200-211326000	Weak transcription	NHDF-Ad	bronchial
27	chr2:211300400-211329800	Weak transcription	A549	lung
28	chr2:211301200-211317000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:211301200-211319200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:211301200-211319200	Weak transcription	Fetal Stomach	stomach
31	chr2:211301200-211322400	Weak transcription	Aorta	Aorta
32	chr2:211301200-211322600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:211301200-211322600	Weak transcription	Pancreas	Pancrea
34	chr2:211301200-211322600	Weak transcription	Spleen	Spleen
35	chr2:211301200-211325400	Weak transcription	Esophagus	oesophagus
36	chr2:211301200-211330000	Weak transcription	Gastric	stomach
37	chr2:211301200-211340200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:211301200-211340600	Weak transcription	Fetal Intestine Small	intestine
39	chr2:211301200-211340800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:211301400-211311000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:211301400-211318800	Weak transcription	Psoas Muscle	Psoas
42	chr2:211301400-211319000	Weak transcription	Fetal Kidney	kidney
43	chr2:211301400-211319200	Weak transcription	Thymus	Thymus
44	chr2:211301400-211330000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:211301400-211330800	Weak transcription	Right Ventricle	heart
46	chr2:211301400-211334400	Weak transcription	NHEK	skin
47	chr2:211301400-211336000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr2:211301800-211315800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:211301800-211318000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr2:211302200-211311400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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