Variant report

Variant	rs382747
Chromosome Location	chr2:10023105-10023106
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10022528..10025369-chr2:10031502..10033505,2	K562	blood:
2	chr2:10016707..10019550-chr2:10020625..10023178,3	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11692193	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12477755	0.83[AFR][1000 genomes]
rs13008782	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1709854	0.83[AFR][1000 genomes]
rs17364189	1.00[YRI][hapmap]
rs2241664	0.83[AFR][1000 genomes]
rs287972	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs287974	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs287986	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs287987	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs287988	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs287992	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs287993	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs287994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs287995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs287996	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs287997	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs287999	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35029226	0.83[AFR][1000 genomes]
rs369551	0.83[AFR][1000 genomes]
rs369605	1.00[YRI][hapmap]
rs371305	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs372031	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs374197	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs375793	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs386355	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs388570	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs388695	0.83[AFR][1000 genomes]
rs389002	0.83[AFR][1000 genomes]
rs391889	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs396281	0.83[AFR][1000 genomes]
rs397498	0.83[AFR][1000 genomes]
rs397871	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs400758	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs403317	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs407874	0.83[AFR][1000 genomes]
rs410121	0.83[AFR][1000 genomes]
rs411413	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs412039	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs414499	0.83[AFR][1000 genomes]
rs415676	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs416228	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs420122	0.83[AFR][1000 genomes]
rs423651	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs431519	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs431562	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs437662	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs437906	0.83[AFR][1000 genomes]
rs438762	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs438966	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs439310	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs444650	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs447465	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs447476	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs448287	1.00[YRI][hapmap]
rs449472	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs450286	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs450643	0.83[AFR][1000 genomes]
rs451045	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs451412	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs452789	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs453568	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs453933	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs454269	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs4669496	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs499858	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs514805	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56010640	0.83[AFR][1000 genomes]
rs56102002	0.83[AFR][1000 genomes]
rs572907	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60508879	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6731044	0.93[ASN][1000 genomes]
rs7599798	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv873630	chr2:9953949-10030024	Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
4	nsv873631	chr2:9975557-10059770	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
5	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv580960	chr2:9993451-10066694	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
8	nsv873632	chr2:10000978-10045014	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs382747	TAF1B	cis	Skin Sun Exposed Lower leg	GTEx
rs382747	TAF1B	cis	Nerve Tibial	GTEx
rs382747	TAF1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9987200-10038400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:9993800-10079600	Weak transcription	Gastric	stomach
3	chr2:9995800-10038000	Weak transcription	Small Intestine	intestine
4	chr2:9998200-10024000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:9998200-10035600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:9998600-10024000	Weak transcription	Pancreas	Pancrea
7	chr2:9998800-10026000	Weak transcription	Fetal Brain Male	brain
8	chr2:9998800-10032200	Weak transcription	Fetal Heart	heart
9	chr2:9998800-10036400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:9999000-10024000	Weak transcription	Colonic Mucosa	Colon
11	chr2:9999000-10024000	Weak transcription	Spleen	Spleen
12	chr2:9999000-10035800	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:9999000-10035800	Weak transcription	Brain Substantia Nigra	brain
14	chr2:9999000-10037000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:9999000-10037200	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:9999200-10036200	Weak transcription	Brain Angular Gyrus	brain
17	chr2:9999200-10036400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:9999200-10053800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:10001600-10024000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:10001600-10024000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:10002200-10024200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:10007800-10026200	Strong transcription	Dnd41	blood
23	chr2:10008000-10026800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:10008200-10028000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr2:10008400-10026600	Weak transcription	GM12878-XiMat	blood
26	chr2:10009000-10024000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:10014600-10024000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:10014800-10045400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr2:10015000-10036200	Weak transcription	Fetal Kidney	kidney
30	chr2:10015200-10024000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:10015800-10024000	Weak transcription	Aorta	Aorta
32	chr2:10016800-10024000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:10017600-10024800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:10017600-10036200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:10017800-10024000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:10017800-10073000	Weak transcription	Right Ventricle	heart
37	chr2:10018000-10023600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:10018000-10026400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:10018200-10023400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:10018200-10024400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr2:10018400-10035600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr2:10018600-10024800	Strong transcription	Placenta	Placenta
43	chr2:10018800-10023600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:10018800-10024000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:10018800-10024000	Weak transcription	Psoas Muscle	Psoas
46	chr2:10018800-10027600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr2:10018800-10036200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:10019000-10036000	Weak transcription	Stomach Mucosa	stomach
49	chr2:10019400-10026200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:10019600-10023400	Weak transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links