Variant report

Variant	rs16926569
Chromosome Location	chr8:61815042-61815043
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr8:61814774-61815299	MCF-7	breast:	n/a	n/a
2	EP300	chr8:61814837-61815140	MCF-7	breast:	n/a	n/a
3	CEBPB	chr8:61814867-61815362	MCF-7	breast:	n/a	chr8:61815123-61815134
4	NR2F2	chr8:61814701-61815342	MCF-7	breast:	n/a	n/a
5	ZNF217	chr8:61814815-61815264	MCF-7	breast:	n/a	n/a
6	NR2F2	chr8:61814720-61815391	MCF-7	breast:	n/a	n/a
7	SIN3AK20	chr8:61814746-61815414	MCF-7	breast:	n/a	n/a
8	CEBPB	chr8:61814880-61815345	MCF-7	breast:	n/a	chr8:61815123-61815134

No.	Distal block	Cell Line	Cell type
1	chr8:61814318..61816214-chr8:61820305..61823088,2	K562	blood:
2	chr8:61814901..61816723-chr8:61822451..61825300,2	MCF-7	breast:
3	chr8:61812523..61815203-chr8:61818659..61820454,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271377	TF binding region
ENSG00000254777	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10957168	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11780935	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11783902	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11784276	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11784344	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11784761	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11787017	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12549487	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4314681	0.93[ASN][1000 genomes]
rs4738842	0.86[JPT][hapmap]
rs61448706	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62525899	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62525901	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6993866	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6994028	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72652539	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7840653	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16926569	TTPA	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61811400-61815600	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr8:61811800-61817000	Enhancers	Fetal Thymus	thymus
3	chr8:61812000-61817200	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr8:61812000-61817600	Enhancers	Primary T cells from cord blood	blood
5	chr8:61812200-61821200	Weak transcription	Right Atrium	heart
6	chr8:61812400-61815600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:61812600-61815200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr8:61812600-61815800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:61812800-61815200	Weak transcription	Small Intestine	intestine
10	chr8:61812800-61815400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:61812800-61815600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:61812800-61815600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:61813000-61816000	Weak transcription	Primary B cells from cord blood	blood
14	chr8:61813000-61816000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:61813200-61815600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:61813400-61815600	Weak transcription	Colonic Mucosa	Colon
17	chr8:61813800-61815200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr8:61813800-61817200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr8:61814200-61815600	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr8:61814200-61816000	Enhancers	HUVEC	blood vessel
21	chr8:61814200-61816200	Enhancers	Stomach Mucosa	stomach
22	chr8:61814200-61817400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr8:61814400-61815600	Enhancers	GM12878-XiMat	blood
24	chr8:61814400-61816200	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr8:61814400-61816400	Enhancers	Fetal Intestine Large	intestine
26	chr8:61814600-61815800	Weak transcription	K562	blood
27	chr8:61814600-61816200	Enhancers	HepG2	liver
28	chr8:61814600-61817400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:61814800-61816200	Enhancers	Fetal Intestine Small	intestine
30	chr8:61814800-61816600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:61814800-61817200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr8:61814800-61817400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr8:61815000-61815200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:61815000-61816800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr8:61815000-61817000	Enhancers	Primary T cells fromperipheralblood	blood
36	chr8:61815000-61817200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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