Variant report

Variant	rs2707761
Chromosome Location	chr5:112149927-112149928
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10515446	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs10515449	0.84[CEU][hapmap]
rs11555908	1.00[JPT][hapmap]
rs11950612	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs12189	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1613148	0.87[EUR][1000 genomes]
rs1644240	0.87[ASN][1000 genomes]
rs17164132	0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1734242	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs1804197	0.83[ASN][1000 genomes]
rs2304793	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs3733961	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6650981	0.92[ASN][1000 genomes]
rs6885768	1.00[ASN][1000 genomes]
rs6891448	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs6899169	0.91[ASN][1000 genomes]
rs7703438	1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs7706623	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs7707339	0.97[ASN][1000 genomes]
rs7712157	0.87[ASN][1000 genomes]
rs7712303	0.87[ASN][1000 genomes]
rs7712537	0.87[ASN][1000 genomes]
rs7728109	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs7728216	0.87[ASN][1000 genomes]
rs7729562	0.81[ASN][1000 genomes]
rs918397	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032464	chr5:112076061-112192380	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv537862	chr5:112076061-112192380	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv33290	chr5:112110808-112238295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112093400-112183800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:112100000-112152200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:112103000-112173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:112104600-112155400	Weak transcription	Psoas Muscle	Psoas
5	chr5:112115800-112151200	Weak transcription	NHEK	skin
6	chr5:112118200-112151200	Weak transcription	Gastric	stomach
7	chr5:112118200-112155600	Weak transcription	Right Ventricle	heart
8	chr5:112118200-112177000	Weak transcription	Colonic Mucosa	Colon
9	chr5:112129000-112151600	Weak transcription	Hela-S3	cervix
10	chr5:112129000-112154600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:112129000-112157400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr5:112129400-112163800	Weak transcription	Small Intestine	intestine
13	chr5:112129600-112163600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:112129800-112154800	Weak transcription	NH-A	brain
15	chr5:112130600-112150000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr5:112130600-112150200	Weak transcription	NHLF	lung
17	chr5:112130600-112154800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:112130600-112155400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:112130600-112155600	Weak transcription	Fetal Heart	heart
20	chr5:112130800-112150000	Weak transcription	Spleen	Spleen
21	chr5:112130800-112150200	Weak transcription	Aorta	Aorta
22	chr5:112130800-112151200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:112130800-112151400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr5:112130800-112154800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:112130800-112155400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr5:112131200-112151200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr5:112131200-112151200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr5:112131400-112151200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:112131800-112157800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:112131800-112164000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr5:112132000-112150800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:112132000-112154800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:112132000-112174000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr5:112132200-112151200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:112132200-112155200	Weak transcription	Fetal Brain Male	brain
36	chr5:112132800-112179800	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr5:112133400-112150400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr5:112133400-112151200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:112133400-112154800	Weak transcription	HepG2	liver
40	chr5:112133600-112150000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr5:112133600-112160800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr5:112133600-112161400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr5:112134000-112153600	Weak transcription	NHDF-Ad	bronchial
44	chr5:112134000-112162800	Weak transcription	Colon Smooth Muscle	Colon
45	chr5:112136600-112176200	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr5:112137000-112150000	Weak transcription	Brain Substantia Nigra	brain
47	chr5:112137000-112151200	Weak transcription	Pancreas	Pancrea
48	chr5:112137000-112154800	Weak transcription	HUVEC	blood vessel
49	chr5:112137200-112150200	Weak transcription	Thymus	Thymus
50	chr5:112137600-112150200	Weak transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links