Variant report

Variant	rs17844787
Chromosome Location	chr12:56236602-56236603
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	CTCF	chr12:56236540-56236690	AG09319	gingival:	n/a	n/a
2	RAD21	chr12:56236406-56236963	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr12:56236568-56237008	IMR90	lung:	n/a	chr12:56236803-56236820 chr12:56236805-56236816
4	POLR2A	chr12:56236352-56236957	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr12:56236542-56236879	IMR90	lung:	n/a	n/a
6	CEBPD	chr12:56236574-56237063	K562	blood:	n/a	chr12:56236804-56236815
7	JUND	chr12:56236536-56237017	K562	blood:	n/a	chr12:56236787-56236797 chr12:56236786-56236797 chr12:56236787-56236797 chr12:56236787-56236797 chr12:56236788-56236796
8	FOSL2	chr12:56236601-56237030	A549	lung:	n/a	chr12:56236787-56236797 chr12:56236787-56236797 chr12:56236787-56236797 chr12:56236785-56236796 chr12:56236788-56236796
9	CTCF	chr12:56236560-56236710	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr12:56236580-56236730	AG04449	skin:	n/a	n/a
11	POLR2A	chr12:56236519-56236804	ProgFib	skin:	n/a	n/a
12	CTCF	chr12:56236500-56236650	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr12:56236560-56237069	A549	lung:	n/a	chr12:56236803-56236820 chr12:56236805-56236816
14	RAD21	chr12:56236505-56236971	IMR90	lung:	n/a	n/a
15	CTCF	chr12:56236560-56236710	HPF	lung:	n/a	n/a
16	POLR2A	chr12:56236480-56236992	IMR90	lung:	n/a	n/a
17	CTCF	chr12:56236420-56236710	HCM	heart:	n/a	n/a
18	POLR2A	chr12:56236538-56236864	U87	brain:	n/a	n/a
19	POLR2A	chr12:56236302-56237033	U87	brain:	n/a	n/a
20	CTCF	chr12:56236560-56236710	HA-sp	spinal cord:	n/a	n/a
21	CTCF	chr12:56236583-56236665	Fibrobl	skin:	n/a	n/a
22	FOSL1	chr12:56236441-56237151	HCT-116	colon:	n/a	chr12:56236787-56236797 chr12:56236787-56236797 chr12:56236787-56236797 chr12:56236788-56236796 chr12:56236786-56236797
23	CTCF	chr12:56236540-56236690	HMF	breast:	n/a	n/a
24	JUN	chr12:56235909-56237196	K562	blood:	n/a	chr12:56236787-56236797 chr12:56236787-56236797 chr12:56236787-56236797 chr12:56236788-56236796
25	FOSL2	chr12:56236560-56237034	HepG2	liver:	n/a	chr12:56236787-56236797 chr12:56236787-56236797 chr12:56236787-56236797 chr12:56236785-56236796 chr12:56236788-56236796
26	CEBPB	chr12:56236464-56237148	HCT-116	colon:	n/a	chr12:56236803-56236820 chr12:56236805-56236816
27	CTCF	chr12:56236540-56236690	HBMEC	blood vessel:	n/a	n/a
28	POLR2A	chr12:56236486-56236869	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr12:56236530-56236832	MCF10A-Er-Src	breast:	n/a	n/a
30	CTCF	chr12:56236580-56236730	AoAF	blood vessel:	n/a	n/a
31	FOSL2	chr12:56236510-56237088	SK-N-SH	brain:	n/a	chr12:56236787-56236797 chr12:56236787-56236797 chr12:56236787-56236797 chr12:56236785-56236796 chr12:56236788-56236796
32	ATF3	chr12:56236589-56236980	K562	blood:	n/a	n/a
33	CTCF	chr12:56236460-56236610	HVMF	connective:	n/a	n/a
34	CEBPB	chr12:56236550-56236917	HepG2	liver:	n/a	chr12:56236803-56236820 chr12:56236805-56236816
35	FOSL1	chr12:56236583-56236963	K562	blood:	n/a	chr12:56236787-56236797 chr12:56236787-56236797 chr12:56236787-56236797 chr12:56236788-56236796 chr12:56236786-56236797
36	CTCF	chr12:56236600-56236750	HMF	breast:	n/a	n/a
37	JUND	chr12:56236540-56236935	H1-hESC	embryonic stem cell:	n/a	chr12:56236787-56236797 chr12:56236786-56236797 chr12:56236787-56236797 chr12:56236787-56236797 chr12:56236788-56236796
38	TEAD4	chr12:56236602-56237050	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr12:56236534-56237182	K562	blood:	n/a	chr12:56236803-56236820 chr12:56236805-56236816
40	CTCF	chr12:56236540-56236690	NHDF-neo	bronchial:	n/a	n/a
41	TRIM28	chr12:56236579-56237145	K562	blood:	n/a	n/a
42	POLR2A	chr12:56236547-56236743	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr12:56236580-56236730	AG10803	skin:	n/a	n/a
44	POLR2A	chr12:56236582-56236785	K562	blood:	n/a	n/a
45	CTCF	chr12:56236600-56236750	HCM	heart:	n/a	n/a
46	CTCF	chr12:56236520-56236670	AG09309	skin:	n/a	n/a
47	CEBPB	chr12:56236522-56237102	A549	lung:	n/a	chr12:56236803-56236820 chr12:56236805-56236816
48	POLR2A	chr12:56236586-56236882	Gliobla	brain:	n/a	n/a
49	CEBPB	chr12:56236442-56237157	HCT-116	colon:	n/a	chr12:56236803-56236820 chr12:56236805-56236816
50	CTCF	chr12:56236520-56236670	HFF	foreskin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:56209321..56212347-chr12:56235221..56238369,3	K562	blood:
2	chr12:56222506..56227501-chr12:56233677..56237355,4	K562	blood:
3	chr12:56224688..56227501-chr12:56233908..56236745,4	K562	blood:
4	chr12:56228843..56232382-chr12:56234016..56237333,4	K562	blood:
5	chr12:56220285..56224153-chr12:56233677..56238372,4	K562	blood:
6	chr12:56235299..56237964-chr12:56318777..56323177,4	MCF-7	breast:
7	chr12:56232360..56237326-chr12:56316163..56320896,5	K562	blood:
8	chr12:56234715..56236964-chr12:56319809..56321457,2	K562	blood:

Variant related genes	Relation type
MMP19	TF binding region
ENSG00000065357	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000123342	Chromatin interaction
ENSG00000123353	Chromatin interaction
ENSG00000205323	Chromatin interaction
ENSG00000257390	Chromatin interaction
ENSG00000170473	Chromatin interaction
ENSG00000182796	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1056784	1.00[YRI][hapmap]
rs11574657	1.00[YRI][hapmap]
rs11834873	1.00[CHD][hapmap]
rs12423802	1.00[YRI][hapmap]
rs13020	1.00[ASN][1000 genomes]
rs17117976	1.00[ASN][1000 genomes]
rs17844785	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17844786	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2071024	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs2231467	1.00[ASN][1000 genomes]
rs2640568	1.00[CHD][hapmap]
rs3741502	1.00[YRI][hapmap]
rs3858538	1.00[YRI][hapmap]
rs60297652	1.00[ASN][1000 genomes]
rs6581081	1.00[ASN][1000 genomes]
rs705697	1.00[CHD][hapmap]
rs715817	1.00[CHD][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs772258	1.00[ASN][1000 genomes]
rs772464	1.00[CHD][hapmap]
rs7975037	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56225400-56237000	Weak transcription	GM12878-XiMat	blood
2	chr12:56225800-56244000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:56226800-56241400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:56227600-56241200	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:56229000-56240800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:56230400-56241000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:56232400-56241000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:56233600-56241000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:56233600-56242400	Weak transcription	Spleen	Spleen
10	chr12:56234800-56237000	Active TSS	Colonic Mucosa	Colon
11	chr12:56235000-56237200	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr12:56235200-56237200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:56235400-56236800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr12:56235600-56236800	Active TSS	Right Atrium	heart
15	chr12:56235600-56237200	Flanking Active TSS	Osteobl	bone
16	chr12:56235600-56237600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:56235800-56236800	Active TSS	Duodenum Mucosa	Duodenum
18	chr12:56235800-56237000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:56235800-56237000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr12:56235800-56237000	Flanking Active TSS	HSMM	muscle
21	chr12:56235800-56237200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
22	chr12:56236000-56236800	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr12:56236000-56236800	Active TSS	Aorta	Aorta
24	chr12:56236000-56236800	Active TSS	Psoas Muscle	Psoas
25	chr12:56236000-56236800	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr12:56236000-56236800	Active TSS	Right Ventricle	heart
27	chr12:56236000-56236800	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr12:56236000-56236800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
29	chr12:56236000-56236800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr12:56236000-56237000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:56236000-56237000	Active TSS	Rectal Smooth Muscle	rectum
32	chr12:56236000-56237000	Flanking Active TSS	NH-A	brain
33	chr12:56236000-56237000	Flanking Active TSS	NHLF	lung
34	chr12:56236000-56237200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:56236000-56237200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr12:56236200-56236800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:56236200-56236800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:56236200-56236800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr12:56236200-56236800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr12:56236200-56236800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:56236200-56236800	Active TSS	Colon Smooth Muscle	Colon
42	chr12:56236200-56236800	Active TSS	Esophagus	oesophagus
43	chr12:56236200-56236800	Flanking Active TSS	Placenta	Placenta
44	chr12:56236200-56236800	Active TSS	Fetal Thymus	thymus
45	chr12:56236200-56236800	Active TSS	Left Ventricle	heart
46	chr12:56236200-56236800	Active TSS	Lung	lung
47	chr12:56236200-56236800	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr12:56236200-56237000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr12:56236200-56237000	Flanking Active TSS	NHEK	skin
50	chr12:56236200-56237200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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