Variant report

Variant	rs1259867
Chromosome Location	chr12:32106192-32106193
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	TCF7L2	chr12:32105941-32106547	PANC-1	pancreas:	n/a	n/a
2	GATA3	chr12:32105869-32106271	T-47D	breast:	n/a	n/a
3	RCOR1	chr12:32106015-32106216	K562	blood:	n/a	n/a
4	GATA3	chr12:32105872-32106259	MCF-7	breast:	n/a	n/a
5	GATA3	chr12:32105851-32106294	T-47D	breast:	n/a	n/a
6	KAP1	chr12:32105970-32106710	U2OS	brain:	n/a	n/a
7	GATA2	chr12:32105809-32106204	SH-SY5Y	brain:	n/a	n/a
8	BHLHE40	chr12:32106076-32106205	K562	blood:	n/a	n/a
9	SIN3AK20	chr12:32105815-32106460	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32105215..32108497-chr12:32110328..32112863,3	MCF-7	breast:
2	chr12:31880548..31882794-chr12:32103852..32106283,2	K562	blood:

Variant related genes	Relation type
ENSG00000256987	TF binding region
ENSG00000174718	Chromatin interaction
ENSG00000151743	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1151005	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1151007	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1666245	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1797727	0.93[AFR][1000 genomes];1.00[AMR][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	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	nsv1040680	chr12:32079034-32124694	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32080600-32111400	Weak transcription	Aorta	Aorta
2	chr12:32093000-32111200	Weak transcription	Psoas Muscle	Psoas
3	chr12:32099400-32111200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:32101400-32108000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:32101400-32110600	Weak transcription	Left Ventricle	heart
6	chr12:32101400-32111000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:32101600-32107200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:32103400-32108400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:32103400-32111200	Weak transcription	Liver	Liver
10	chr12:32103600-32108000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:32103600-32109400	Weak transcription	Fetal Intestine Small	intestine
12	chr12:32103600-32111200	Weak transcription	Thymus	Thymus
13	chr12:32103600-32111400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:32103800-32106800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:32104000-32106200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr12:32104000-32107600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr12:32104200-32106600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:32104200-32106800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr12:32104200-32108200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:32104200-32108200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr12:32104200-32108600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:32104400-32106600	Enhancers	Placenta	Placenta
23	chr12:32104400-32108200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:32104400-32111200	Weak transcription	Right Atrium	heart
25	chr12:32104600-32106200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr12:32105200-32111200	Weak transcription	Primary B cells from cord blood	blood
27	chr12:32105400-32107200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr12:32105600-32107000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:32106000-32106400	Enhancers	Fetal Intestine Large	intestine
30	chr12:32106000-32106400	Enhancers	HepG2	liver
31	chr12:32106000-32108400	Enhancers	K562	blood
32	chr12:32106000-32108800	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr12:32106000-32109600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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