Variant report

Variant	rs1907117
Chromosome Location	chr4:143199343-143199344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10029437	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1907109	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1907113	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1907119	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1948323	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2130685	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2172023	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2627812	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2627816	0.96[EUR][1000 genomes]
rs2627817	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2627834	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2627835	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2627836	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2636632	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2636635	0.81[AMR][1000 genomes]
rs2636641	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2636642	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2636643	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2636647	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2636655	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2636656	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2636657	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2636660	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2636679	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2636685	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3102436	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3102437	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3102438	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102439	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3102443	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3102444	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3102446	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3113511	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3113513	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3113515	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34648309	0.82[EUR][1000 genomes]

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:36 , 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	chr4:143186600-143199800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:143187400-143199400	Weak transcription	Fetal Muscle Leg	muscle
4	chr4:143187400-143199400	Weak transcription	NH-A	brain
5	chr4:143187400-143200400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:143187400-143203800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr4:143187400-143218600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:143187600-143200600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr4:143192000-143210600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:143192000-143219400	Weak transcription	Dnd41	blood
11	chr4:143192200-143203800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:143192200-143206000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr4:143194000-143200200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr4:143196000-143225200	Weak transcription	NHDF-Ad	bronchial
15	chr4:143196200-143199600	Weak transcription	HSMMtube	muscle
16	chr4:143196200-143203600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:143196600-143199400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr4:143196800-143203200	Weak transcription	A549	lung
19	chr4:143197400-143202200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr4:143197600-143203800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr4:143198000-143201200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr4:143198600-143200200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:143198800-143199800	Strong transcription	Primary T cells from cord blood	blood
24	chr4:143199000-143199400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr4:143199000-143199400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:143199000-143199400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:143199000-143199400	Enhancers	Psoas Muscle	Psoas
28	chr4:143199000-143199400	Genic enhancers	HMEC	breast
29	chr4:143199000-143199800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:143199000-143201000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:143199200-143199800	Enhancers	Placenta Amnion	Placenta Amnion
32	chr4:143199200-143199800	Genic enhancers	HSMM	muscle
33	chr4:143199200-143200000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:143199200-143200200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:143199200-143200200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:143199200-143200600	Enhancers	NHEK	skin

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