Variant report

Variant	rs12669915
Chromosome Location	chr7:96771252-96771253
allele	C/T
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	CBX3	chr7:96770772-96771281	K562	blood:	n/a	n/a
2	CEBPB	chr7:96771220-96771438	H1-hESC	embryonic stem cell:	n/a	chr7:96771323-96771334

Variant related genes	Relation type
ACN9	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1014341	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10229181	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10231916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10233801	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10235199	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10246622	0.82[ASN][1000 genomes]
rs10252102	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10260298	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10274547	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10275135	0.85[ASN][1000 genomes]
rs10279603	0.81[ASN][1000 genomes]
rs10281783	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11972232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1199289	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1199290	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1199291	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1199292	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12056091	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12671362	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13475	0.93[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1534370	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1880732	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1917941	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2140954	0.86[CHB][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs2693313	0.96[CEU][hapmap]
rs28646010	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28825121	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34159711	0.82[EUR][1000 genomes]
rs4729330	0.83[ASN][1000 genomes]
rs62499473	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6465571	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6943457	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6961807	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963921	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6973369	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[ASN][1000 genomes]
rs73233819	0.83[ASN][1000 genomes]
rs7787376	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7794886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs7803945	1.00[CEU][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7810432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7811797	0.85[ASN][1000 genomes]
rs9656043	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019725	chr7:96749866-96850819	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv539029	chr7:96749866-96850819	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96760400-96796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:96764400-96773000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:96765400-96772200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr7:96766400-96773000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr7:96766800-96772000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr7:96767200-96771600	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr7:96767400-96771600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:96768400-96789000	Weak transcription	Aorta	Aorta
9	chr7:96768800-96790400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:96768800-96797800	Weak transcription	Left Ventricle	heart
11	chr7:96769000-96774200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:96769000-96778800	Weak transcription	Fetal Lung	lung
13	chr7:96769000-96789000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:96769000-96790000	Weak transcription	Ovary	ovary
15	chr7:96769000-96799600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:96769000-96811600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:96769200-96772600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:96769200-96789800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:96769200-96791200	Weak transcription	Fetal Kidney	kidney
20	chr7:96769400-96793400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:96769600-96780600	Weak transcription	Primary T cells from cord blood	blood
22	chr7:96769600-96783000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:96769600-96788600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr7:96769600-96788800	Weak transcription	Primary B cells from cord blood	blood
25	chr7:96769600-96789000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:96769800-96788400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr7:96769800-96789000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:96770800-96771400	ZNF genes & repeats	Liver	Liver
29	chr7:96771000-96771400	ZNF genes & repeats	A549	lung
30	chr7:96771000-96771600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr7:96771000-96771800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:96771200-96771600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:96771200-96774600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr7:96771200-96781000	Weak transcription	K562	blood

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