Variant report

Variant	rs2322703
Chromosome Location	chr4:143204524-143204525
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs13109869	0.82[JPT][hapmap]
rs13120882	0.88[JPT][hapmap]
rs1343812	0.89[JPT][hapmap]
rs173045	1.00[YRI][hapmap]
rs1907120	0.86[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes]
rs1907134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1907137	0.83[JPT][hapmap]
rs1907141	0.88[AMR][1000 genomes]
rs1994217	0.85[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes]
rs2130684	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2172024	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2245600	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2247587	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2247659	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2627798	0.86[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes]
rs2627804	1.00[YRI][hapmap]
rs2627813	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2627832	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2627833	0.86[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes]
rs2636633	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2636636	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2636645	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs2636675	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2636682	0.91[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes]
rs2636683	0.82[CEU][hapmap]
rs2636686	0.86[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2645815	0.82[CEU][hapmap]
rs3102440	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3102447	0.83[AMR][1000 genomes]
rs3113522	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830098	chr4:143050143-143234384	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv595604	chr4:143077401-143228914	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv830099	chr4:143138257-143285055	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143183000-143204800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:143187400-143218600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:143192000-143210600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:143192000-143219400	Weak transcription	Dnd41	blood
5	chr4:143192200-143206000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr4:143196000-143225200	Weak transcription	NHDF-Ad	bronchial
7	chr4:143199400-143230800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:143200000-143215000	Weak transcription	HSMMtube	muscle
9	chr4:143200000-143240000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:143200200-143210600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:143202000-143207400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:143203200-143205400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:143203200-143205600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:143203200-143206800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr4:143203400-143204600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr4:143203800-143205400	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr4:143203800-143205800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr4:143203800-143206200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:143203800-143206400	Weak transcription	Aorta	Aorta
20	chr4:143203800-143207400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:143204000-143204800	Strong transcription	HSMM	muscle
22	chr4:143204000-143206600	Weak transcription	Pancreas	Pancrea
23	chr4:143204000-143230600	Weak transcription	Left Ventricle	heart
24	chr4:143204200-143204600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr4:143204200-143204600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:143204200-143204600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:143204200-143205800	Enhancers	Primary T cells from cord blood	blood
28	chr4:143204200-143209000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:143204200-143209200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:143204200-143210600	Weak transcription	HMEC	breast
31	chr4:143204200-143229000	Weak transcription	NHEK	skin
32	chr4:143204400-143204600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr4:143204400-143204800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr4:143204400-143205600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:143204400-143206800	Enhancers	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links