Variant report

Variant	rs11615830
Chromosome Location	chr12:122986534-122986535
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:122985050-122986645	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr12:122984581-122986609	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr12:122985093-122986581	U87	brain:	n/a	n/a
4	POLR2A	chr12:122984448-122986669	H1-hESC	embryonic stem cell:	n/a	n/a
5	CREB1	chr12:122984351-122986657	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:122984476-122989092	SK-N-MC	brain:	n/a	n/a
7	STAT5A	chr12:122984514-122986542	GM12878	blood:	n/a	n/a
8	PML	chr12:122984411-122986584	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:122985090-122986587	U87	brain:	n/a	n/a
10	POLR2A	chr12:122984462-122989613	PANC-1	pancreas:	n/a	n/a
11	NFIC	chr12:122985094-122986658	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:122984584-122988911	GM12891	blood:	n/a	n/a
13	CHD1	chr12:122984596-122986589	GM12878	blood:	n/a	n/a
14	POLR2A	chr12:122986460-122989626	HepG2	liver:	n/a	n/a
15	MXI1	chr12:122984027-122986608	SK-N-SH	brain:	n/a	n/a
16	RUNX3	chr12:122984525-122986586	GM12878	blood:	n/a	n/a
17	SPI1	chr12:122986512-122987339	GM12878	blood:	n/a	chr12:122986875-122986884
18	BCL3	chr12:122985078-122986601	A549	lung:	n/a	chr12:122985573-122985586
19	RUNX3	chr12:122984470-122986575	GM12878	blood:	n/a	n/a
20	POLR2A	chr12:122984706-122988784	MCF-7	breast:	n/a	n/a
21	CEBPB	chr12:122985377-122986594	GM12878	blood:	n/a	n/a
22	JUN	chr12:122984534-122986595	K562	blood:	n/a	n/a
23	ATF2	chr12:122985323-122986576	GM12878	blood:	n/a	n/a
24	POLR2A	chr12:122986204-122986585	PFSK-1	brain:	n/a	n/a
25	MTA3	chr12:122984402-122986585	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122967462..122970113-chr12:122983945..122986979,3	K562	blood:
2	chr12:122982366..122988748-chr12:123005500..123012938,17	MCF-7	breast:
3	chr12:122986382..122988482-chr12:122989690..122991321,2	MCF-7	breast:
4	chr12:122882610..122885113-chr12:122985473..122987082,2	K562	blood:
5	chr12:122882713..122885113-chr12:122985565..122987437,3	K562	blood:
6	chr12:122905004..122910047-chr12:122982684..122986625,7	MCF-7	breast:
7	chr12:122884122..122887585-chr12:122984218..122986985,3	MCF-7	breast:
8	chr12:122708927..122712282-chr12:122984043..122986704,3	K562	blood:

No data

Variant related genes	Relation type
ZCCHC8	TF binding region
ENSG00000184047	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000033030	Chromatin interaction
ENSG00000184445	Chromatin interaction
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10744242	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10773230	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10846968	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10846993	0.90[ASN][1000 genomes]
rs10847090	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11058362	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11058398	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11610303	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12371048	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12817342	0.88[ASN][1000 genomes]
rs12825762	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12828165	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1532578	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2133557	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4356269	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4758657	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4758658	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4758660	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4758692	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57311174	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58600355	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61956098	0.82[AMR][1000 genomes]
rs61956119	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6416295	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6489014	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6489051	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6489056	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7132830	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7134381	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7136564	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7296680	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7297866	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7298839	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7303688	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7307867	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7311573	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7486949	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7955513	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7967928	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[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	nsv899570	chr12:122985057-123089209	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	93 gene(s)	inside rSNPs	diseases
2	esv3379936	chr12:122986475-122986716	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122984200-122986600	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr12:122985400-122988400	Weak transcription	Small Intestine	intestine
3	chr12:122985600-122986600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:122985600-122986600	Flanking Active TSS	Dnd41	blood
5	chr12:122985600-122987600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:122985600-122987800	Weak transcription	Gastric	stomach
7	chr12:122985600-122991000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:122985600-122991000	Weak transcription	Aorta	Aorta
9	chr12:122985600-122991000	Weak transcription	Esophagus	oesophagus
10	chr12:122985600-122991000	Weak transcription	Ovary	ovary
11	chr12:122985800-122987000	Flanking Active TSS	GM12878-XiMat	blood
12	chr12:122985800-122987800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:122985800-122987800	Weak transcription	HSMMtube	muscle
14	chr12:122986000-122986600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:122986000-122986800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:122986000-122986800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:122986000-122987000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:122986000-122987000	Genic enhancers	Fetal Thymus	thymus
19	chr12:122986000-122987200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr12:122986000-122987200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:122986000-122987400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:122986000-122987400	Weak transcription	Lung	lung
23	chr12:122986000-122987800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr12:122986000-122987800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:122986000-122987800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:122986000-122987800	Weak transcription	Left Ventricle	heart
27	chr12:122986000-122987800	Weak transcription	Pancreas	Pancrea
28	chr12:122986000-122987800	Weak transcription	Psoas Muscle	Psoas
29	chr12:122986000-122987800	Weak transcription	HSMM	muscle
30	chr12:122986000-122987800	Weak transcription	NHEK	skin
31	chr12:122986000-122989400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:122986000-122990000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:122986000-122990400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:122986000-122990600	Weak transcription	Stomach Mucosa	stomach
35	chr12:122986000-122991000	Weak transcription	Right Ventricle	heart
36	chr12:122986000-123001800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:122986200-122986600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr12:122986200-122986600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:122986200-122986600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:122986200-122986600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:122986200-122986600	Enhancers	A549	lung
42	chr12:122986200-122986600	Enhancers	HepG2	liver
43	chr12:122986200-122986800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:122986200-122986800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr12:122986200-122986800	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:122986200-122986800	Weak transcription	Osteobl	bone
47	chr12:122986200-122987000	Enhancers	Primary T cells fromperipheralblood	blood
48	chr12:122986200-122987000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr12:122986200-122987000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr12:122986200-122987000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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