Variant report

Variant	rs57046626
Chromosome Location	chr2:10058737-10058738
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10054861..10056659-chr2:10057768..10060141,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1022312	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11677649	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11686239	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11691885	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16867210	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1965411	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2052948	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2163337	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2884175	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs35390016	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35466574	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35686192	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6432041	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6707700	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6742427	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6748720	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6759700	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
3	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
4	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
5	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
6	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
7	nsv1006533	chr2:10030964-10065624	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1004743	chr2:10031389-10065624	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1005938	chr2:10043181-10074384	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1003855	chr2:10045055-10059844	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57046626	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	chr2:9993800-10079600	Weak transcription	Gastric	stomach
2	chr2:10017800-10073000	Weak transcription	Right Ventricle	heart
3	chr2:10026000-10072800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:10030400-10077200	Weak transcription	Aorta	Aorta
5	chr2:10030600-10080600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:10036000-10065800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:10036600-10076200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:10036800-10073000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:10037200-10080400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:10037800-10075600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:10038600-10079800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:10038600-10081400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:10039400-10059400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:10042600-10077000	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:10044200-10065200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:10045800-10079600	Weak transcription	Esophagus	oesophagus
17	chr2:10046000-10075200	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:10047200-10061600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr2:10047200-10080000	Weak transcription	Colonic Mucosa	Colon
20	chr2:10049000-10077400	Weak transcription	Brain Anterior Caudate	brain
21	chr2:10049400-10077200	Weak transcription	Brain Angular Gyrus	brain
22	chr2:10049400-10081000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:10049600-10065200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr2:10049600-10081200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr2:10050200-10061200	Weak transcription	Stomach Mucosa	stomach
26	chr2:10051000-10061200	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:10051200-10064400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr2:10051400-10059400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:10052400-10058800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:10052800-10076600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:10053200-10077800	Weak transcription	Liver	Liver
32	chr2:10053800-10060600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr2:10054600-10073400	Weak transcription	Brain Substantia Nigra	brain
34	chr2:10054800-10059800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:10054800-10063600	Weak transcription	Small Intestine	intestine
36	chr2:10054800-10065000	Weak transcription	Lung	lung
37	chr2:10054800-10066000	Weak transcription	Fetal Brain Male	brain
38	chr2:10054800-10069200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:10054800-10072200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:10054800-10079000	Weak transcription	Fetal Kidney	kidney
41	chr2:10055000-10059000	Weak transcription	Fetal Intestine Large	intestine
42	chr2:10055000-10059400	Weak transcription	Thymus	Thymus
43	chr2:10055000-10059600	Weak transcription	NHLF	lung
44	chr2:10055000-10059800	Weak transcription	Ovary	ovary
45	chr2:10055000-10064000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:10055000-10064800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:10055000-10067600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:10055000-10072600	Weak transcription	Spleen	Spleen
49	chr2:10055000-10080800	Weak transcription	Pancreas	Pancrea
50	chr2:10055000-10080800	Weak transcription	Placenta Amnion	Placenta Amnion

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