Variant report

Variant	rs16893201
Chromosome Location	chr8:120841300-120841301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120840576..120842770-chr8:120843556..120846078,4	MCF-7	breast:
2	chr8:120839573..120843319-chr8:120843374..120845146,4	MCF-7	breast:
3	chr8:120839422..120842271-chr8:120843516..120845279,4	K562	blood:

Variant related genes	Relation type
ENSG00000064313	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10089416	0.81[EUR][1000 genomes]
rs11552092	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1433949	0.80[EUR][1000 genomes]
rs16893117	0.84[EUR][1000 genomes]
rs16893176	0.84[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55834530	0.81[EUR][1000 genomes]
rs56116632	0.84[EUR][1000 genomes]
rs56168312	0.84[EUR][1000 genomes]
rs56285268	0.84[EUR][1000 genomes]
rs56369293	0.84[EUR][1000 genomes]
rs56712359	0.84[EUR][1000 genomes]
rs57094219	0.84[EUR][1000 genomes]
rs57423283	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60576513	0.84[EUR][1000 genomes]
rs60762762	0.84[EUR][1000 genomes]
rs61585800	0.84[EUR][1000 genomes]
rs6469842	0.83[EUR][1000 genomes]
rs6469843	0.83[EUR][1000 genomes]
rs6469847	0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6469848	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6989251	0.84[EUR][1000 genomes]
rs6994297	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6995449	0.84[EUR][1000 genomes]
rs6996373	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7017377	0.85[AMR][1000 genomes]
rs73702609	0.93[EUR][1000 genomes]
rs73702610	0.83[EUR][1000 genomes]
rs73702612	0.93[EUR][1000 genomes]
rs73713100	0.84[EUR][1000 genomes]
rs73713102	0.84[EUR][1000 genomes]
rs7822887	0.85[AMR][1000 genomes]
rs7827756	0.84[EUR][1000 genomes]
rs7831321	0.83[EUR][1000 genomes]
rs7833407	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7835482	0.84[EUR][1000 genomes]
rs7839841	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7843034	0.83[EUR][1000 genomes]
rs956748	0.82[EUR][1000 genomes]
rs956749	0.83[YRI][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16893201	TAF2	Cis_1M	lymphoblastoid	RTeQTL
rs16893201	TAF2	cis	lung	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120781600-120844200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:120805200-120841400	Weak transcription	Gastric	stomach
3	chr8:120805200-120843000	Weak transcription	Psoas Muscle	Psoas
4	chr8:120812800-120842800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr8:120812800-120843600	Strong transcription	Placenta	Placenta
6	chr8:120813400-120844200	Weak transcription	Colonic Mucosa	Colon
7	chr8:120814000-120843600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:120815800-120843200	Weak transcription	Pancreas	Pancrea
9	chr8:120818800-120844200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:120823800-120842000	Strong transcription	Primary T cells from cord blood	blood
11	chr8:120824000-120843200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:120824000-120843200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:120824200-120843200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr8:120824400-120842000	Strong transcription	Liver	Liver
15	chr8:120824800-120843200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr8:120825400-120844200	Weak transcription	Stomach Mucosa	stomach
17	chr8:120829200-120843200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:120829800-120844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:120830000-120844200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:120830400-120843200	Weak transcription	HMEC	breast
21	chr8:120830800-120843800	Weak transcription	Fetal Brain Male	brain
22	chr8:120831800-120843600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr8:120832000-120843000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:120832600-120843400	Weak transcription	HUVEC	blood vessel
25	chr8:120833000-120843400	Strong transcription	Fetal Muscle Leg	muscle
26	chr8:120833400-120843400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr8:120833600-120843400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:120833800-120844200	Weak transcription	Brain Angular Gyrus	brain
29	chr8:120834000-120842800	Strong transcription	Brain Germinal Matrix	brain
30	chr8:120834000-120843400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:120834000-120843400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:120834000-120844000	Weak transcription	Fetal Heart	heart
33	chr8:120835400-120843400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr8:120836000-120842000	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:120836000-120844200	Weak transcription	HSMMtube	muscle
36	chr8:120836400-120842200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:120836600-120842200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:120836600-120843400	Strong transcription	Fetal Stomach	stomach
39	chr8:120836600-120843600	Strong transcription	Fetal Intestine Large	intestine
40	chr8:120836800-120841800	Strong transcription	Ovary	ovary
41	chr8:120836800-120842800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:120836800-120843200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:120836800-120843400	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr8:120836800-120843400	Strong transcription	Thymus	Thymus
45	chr8:120837000-120842000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr8:120837000-120842800	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr8:120837000-120843000	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr8:120837000-120843200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr8:120837000-120843600	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr8:120837400-120843200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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