Variant report

Variant	rs1971101
Chromosome Location	chr2:10026226-10026227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10025374..10028699-chr2:10030128..10032449,3	MCF-7	breast:
2	chr2:9949069..9951498-chr2:10025282..10028550,3	MCF-7	breast:
3	chr2:10023869..10026802-chr2:10030630..10033505,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1022312	0.82[ASW][hapmap]
rs11686239	0.88[ASW][hapmap];0.97[LWK][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes]
rs16867203	0.85[CHB][hapmap]
rs2245344	1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs2303914	1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs2303921	0.81[LWK][hapmap];0.86[YRI][hapmap]
rs375793	0.83[MEX][hapmap]
rs403317	0.83[MEX][hapmap]
rs438762	0.83[MEX][hapmap]
rs499858	0.83[MEX][hapmap]
rs6432039	0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs6432044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6759700	0.89[YRI][hapmap];0.83[AFR][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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs1971101	TAF1B	cis	lung	GTEx
rs1971101	TAF1B	cis	lymphoblastoid	seeQTL
rs1971101	TAF1B	cis	Adipose Subcutaneous	GTEx
rs1971101	TAF1B	cis	multi-tissue	Pritchard
rs1971101	TAF1B	cis	Nerve Tibial	GTEx
rs1971101	RP11-95D17.1	cis	Skin Sun Exposed Lower leg	GTEx
rs1971101	RP11-95D17.1	cis	Muscle Skeletal	GTEx
rs1971101	TAF1B	Cis_1M	lymphoblastoid	RTeQTL
rs1971101	TAF1B	cis	cerebellum	SCAN
rs1971101	TAF1B	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:119 , 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	chr2:9998200-10035600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:9998800-10032200	Weak transcription	Fetal Heart	heart
6	chr2:9998800-10036400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:9999000-10035800	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:9999000-10035800	Weak transcription	Brain Substantia Nigra	brain
9	chr2:9999000-10037000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:9999000-10037200	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:9999200-10036200	Weak transcription	Brain Angular Gyrus	brain
12	chr2:9999200-10036400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:9999200-10053800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:10008000-10026800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:10008200-10028000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:10008400-10026600	Weak transcription	GM12878-XiMat	blood
17	chr2:10014800-10045400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr2:10015000-10036200	Weak transcription	Fetal Kidney	kidney
19	chr2:10017600-10036200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:10017800-10073000	Weak transcription	Right Ventricle	heart
21	chr2:10018000-10026400	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:10018400-10035600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:10018800-10027600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:10018800-10036200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:10019000-10036000	Weak transcription	Stomach Mucosa	stomach
26	chr2:10019600-10027400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:10019800-10037200	Weak transcription	HUVEC	blood vessel
28	chr2:10020200-10029800	Weak transcription	HSMMtube	muscle
29	chr2:10020200-10032200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:10020400-10026800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:10020400-10028400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:10020400-10037400	Weak transcription	K562	blood
33	chr2:10020800-10026400	Weak transcription	HSMM	muscle
34	chr2:10020800-10029000	Weak transcription	HepG2	liver
35	chr2:10021000-10026800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr2:10021800-10026400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:10021800-10028200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr2:10021800-10029200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:10022000-10027400	Strong transcription	A549	lung
40	chr2:10022800-10027200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:10022800-10028200	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr2:10023400-10027200	Strong transcription	Primary B cells from cord blood	blood
43	chr2:10023400-10027200	Strong transcription	Primary T cells from cord blood	blood
44	chr2:10023600-10026400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:10023800-10035000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:10023800-10035800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:10024000-10027600	Strong transcription	Fetal Lung	lung
48	chr2:10024200-10027200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:10024200-10030000	Weak transcription	Aorta	Aorta
50	chr2:10024400-10026800	Weak transcription	H1 Cell Line	embryonic stem cell

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