Variant report

Variant	rs11674480
Chromosome Location	chr2:9914751-9914752
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9913973..9916043-chr2:9918215..9920682,2	K562	blood:
2	chr2:9913973..9917175-chr2:9918406..9921250,3	K562	blood:
3	chr2:9769810..9772214-chr2:9912992..9915030,2	K562	blood:

Variant related genes	Relation type
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10186112	0.87[ASN][1000 genomes]
rs10929614	0.93[GIH][hapmap]
rs11887400	0.90[ASN][1000 genomes]
rs11896311	0.90[ASN][1000 genomes]
rs12988235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1515326	0.86[ASN][1000 genomes]
rs2357266	0.82[CHB][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.90[ASN][1000 genomes]
rs2357267	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4669454	0.82[YRI][hapmap]
rs4669455	0.90[ASN][1000 genomes]
rs4669456	0.90[ASN][1000 genomes]
rs4669460	0.90[ASN][1000 genomes]
rs4669461	0.86[ASN][1000 genomes]
rs6432035	0.90[ASN][1000 genomes]
rs6712066	0.86[ASN][1000 genomes]
rs7599932	0.90[ASN][1000 genomes]
rs7605035	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv470443	chr2:9857018-9975557	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv873618	chr2:9870631-9919759	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv873619	chr2:9870631-9956981	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	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
8	nsv873620	chr2:9906145-9951970	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv524327	chr2:9913515-9954768	Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11674480	TAF1B	cis	cerebellum	SCAN
rs11674480	GREB1	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9908000-9915200	Enhancers	Fetal Muscle Leg	muscle
2	chr2:9909200-9919200	Weak transcription	Thymus	Thymus
3	chr2:9909600-9915000	Enhancers	Fetal Lung	lung
4	chr2:9909800-9914800	Enhancers	Placenta	Placenta
5	chr2:9910600-9919000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:9910800-9915000	Enhancers	Left Ventricle	heart
7	chr2:9911000-9915000	Weak transcription	Lung	lung
8	chr2:9911000-9918200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:9911000-9918400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:9911200-9914800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr2:9911200-9914800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:9911200-9918200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:9911400-9919800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:9911800-9922400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:9912000-9918000	Weak transcription	Fetal Thymus	thymus
16	chr2:9912200-9917200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:9912400-9914800	Enhancers	Duodenum Mucosa	Duodenum
18	chr2:9912400-9918200	Weak transcription	Esophagus	oesophagus
19	chr2:9912400-9918200	Weak transcription	Gastric	stomach
20	chr2:9912400-9921200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:9912400-9923000	Weak transcription	Right Atrium	heart
22	chr2:9912800-9914800	Bivalent Enhancer	Fetal Stomach	stomach
23	chr2:9913200-9915000	Enhancers	NHDF-Ad	bronchial
24	chr2:9913200-9915400	Enhancers	Fetal Muscle Trunk	muscle
25	chr2:9913400-9915000	Enhancers	Adipose Nuclei	Adipose
26	chr2:9913400-9915000	Enhancers	Fetal Intestine Small	intestine
27	chr2:9913600-9915000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:9913600-9915000	Enhancers	Fetal Intestine Large	intestine
29	chr2:9913600-9915000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr2:9913800-9914800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:9913800-9917800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:9914000-9914800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:9914000-9915000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:9914000-9915000	Enhancers	Osteobl	bone
35	chr2:9914200-9916000	Weak transcription	Right Ventricle	heart
36	chr2:9914400-9915000	Enhancers	Colonic Mucosa	Colon
37	chr2:9914400-9915000	Enhancers	Stomach Mucosa	stomach
38	chr2:9914600-9914800	Enhancers	NHLF	lung
39	chr2:9914600-9917400	Weak transcription	Spleen	Spleen

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