Variant report

Variant	rs4683651
Chromosome Location	chr3:141648206-141648207
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141645508..141649980-chr3:141650119..141655905,6	K562	blood:
2	chr3:141646387..141648492-chr3:141652894..141655843,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10755098	0.88[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs10935439	0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs10935440	0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs10935441	0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs10935442	0.88[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs10935443	0.88[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs10935446	1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10935447	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11706195	0.80[ASN][1000 genomes]
rs11707100	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11707427	0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs11710245	0.83[ASN][1000 genomes]
rs11711748	1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11713023	1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11721024	0.85[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs11844	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12486398	0.80[ASN][1000 genomes]
rs12487977	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12487983	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12490893	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12494971	1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12497112	0.83[EUR][1000 genomes]
rs12497443	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16851892	0.88[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs2115935	0.88[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs2288634	0.90[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2288635	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2288636	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34071952	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36038301	0.80[ASN][1000 genomes]
rs3762726	0.83[EUR][1000 genomes]
rs3792410	0.83[ASN][1000 genomes]
rs3792411	0.88[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs3804772	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3804773	0.88[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs3828398	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4683412	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4683638	0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs4683639	0.88[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs4683640	0.80[ASN][1000 genomes]
rs4683641	0.88[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs4683642	0.80[ASN][1000 genomes]
rs4683643	0.80[ASN][1000 genomes]
rs4683644	0.80[ASN][1000 genomes]
rs4683646	0.83[ASN][1000 genomes]
rs4683647	0.80[ASN][1000 genomes]
rs4683649	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4683652	0.89[EUR][1000 genomes]
rs55945175	0.80[ASN][1000 genomes]
rs59122181	0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs745966	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7616903	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4683651	TFDP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141616200-141648600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:141621000-141670800	Weak transcription	Small Intestine	intestine
3	chr3:141623600-141652400	Strong transcription	Fetal Thymus	thymus
4	chr3:141624600-141649200	Weak transcription	Brain Substantia Nigra	brain
5	chr3:141625600-141668400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr3:141626600-141659000	Weak transcription	Pancreas	Pancrea
7	chr3:141627600-141649200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr3:141627800-141652600	Weak transcription	Brain Anterior Caudate	brain
9	chr3:141628200-141673600	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:141628600-141658800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:141628600-141669000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr3:141628800-141669800	Weak transcription	Fetal Lung	lung
13	chr3:141628800-141674000	Weak transcription	Brain Hippocampus Middle	brain
14	chr3:141629000-141739200	Weak transcription	Psoas Muscle	Psoas
15	chr3:141632000-141648800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:141632400-141654000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:141633000-141659000	Weak transcription	NHLF	lung
18	chr3:141634200-141648600	Weak transcription	Aorta	Aorta
19	chr3:141634200-141682000	Weak transcription	Brain Angular Gyrus	brain
20	chr3:141634400-141648600	Weak transcription	Fetal Kidney	kidney
21	chr3:141634400-141656600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr3:141635400-141648600	Strong transcription	Fetal Intestine Large	intestine
23	chr3:141635800-141652400	Weak transcription	HSMM	muscle
24	chr3:141635800-141652600	Strong transcription	Thymus	Thymus
25	chr3:141637400-141658800	Weak transcription	Brain Germinal Matrix	brain
26	chr3:141638600-141648800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:141640200-141650200	Weak transcription	GM12878-XiMat	blood
28	chr3:141640600-141656400	Weak transcription	Fetal Brain Male	brain
29	chr3:141640600-141658800	Weak transcription	Fetal Heart	heart
30	chr3:141640800-141659200	Weak transcription	Colonic Mucosa	Colon
31	chr3:141640800-141659200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr3:141641000-141652800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:141641200-141648800	Strong transcription	Fetal Stomach	stomach
34	chr3:141642800-141648800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr3:141642800-141658600	Weak transcription	A549	lung
36	chr3:141643000-141656400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr3:141643000-141656400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr3:141643000-141675800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr3:141643400-141671200	Weak transcription	Right Ventricle	heart
40	chr3:141643600-141650200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr3:141644800-141649400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr3:141644800-141650000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr3:141644800-141650000	Weak transcription	Osteobl	bone
44	chr3:141644800-141652400	Weak transcription	HSMMtube	muscle
45	chr3:141644800-141658600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr3:141644800-141658600	Weak transcription	NHDF-Ad	bronchial
47	chr3:141644800-141678400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr3:141645000-141650000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:141645400-141653000	Strong transcription	Fetal Intestine Small	intestine
50	chr3:141645800-141650000	Strong transcription	Dnd41	blood

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