Variant report

Variant	rs73268247
Chromosome Location	chr12:22196880-22196881
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr12:22196876-22197123	HepG2	liver:	n/a	n/a
2	FOXA1	chr12:22196804-22197183	HepG2	liver:	n/a	n/a
3	FOXA1	chr12:22196812-22197122	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:22196840-22196890	HCM	heart:	n/a
2	chr12:22196840-22196890	HRCEpiC	kidney:	n/a
3	chr12:22196840-22196890	Jurkat	blood:	n/a
4	chr12:22196840-22196890	Caco-2	colon:	n/a
5	chr12:22196840-22196890	CMK	blood:	n/a
6	chr12:22196840-22196890	MCF-7	breast:	n/a
7	chr12:22196840-22196890	HCT-116	colon:	n/a
8	chr12:22196840-22196890	GM12892	blood:	n/a
9	chr12:22196840-22196890	GM12878	blood:	n/a
10	chr12:22196840-22196890	ovcar-3	ovarian:	n/a
11	chr12:22196840-22196890	NHDF-neo	bronchial:	n/a
12	chr12:22196840-22196890	H1-hESC	embryonic stem cell:	embryo
13	chr12:22196840-22196890	Hepatocyte	liver:	n/a
14	chr12:22196840-22196890	HEEpiC	esophagus:	n/a
15	chr12:22196840-22196890	HNPCEpiC	eye:	n/a
16	chr12:22196840-22196890	GM06990	blood:	n/a
17	chr12:22196840-22196890	BJ	skin:	n/a
18	chr12:22196840-22196890	RPTEC	kidney:	n/a
19	chr12:22196840-22196890	MCF10A-Er-Src	breast:	n/a
20	chr12:22196840-22196890	K562	blood:	n/a
21	chr12:22196840-22196890	HAEpiC	amniotic membrane:	n/a
22	chr12:22196840-22196890	HPAEpiC	pulmonary alveolar:	n/a
23	chr12:22196840-22196890	HCF	heart:	n/a
24	chr12:22196840-22196890	PANC-1	pancreas:	n/a
25	chr12:22196840-22196890	PFSK-1	brain:	n/a
26	chr12:22196840-22196890	IMR90	lung:	fetal
27	chr12:22196840-22196890	HIPEpiC	eye:	n/a
28	chr12:22196840-22196890	HRE	kidney:	n/a
29	chr12:22196840-22196890	HRPEpiC	eye:	n/a
30	chr12:22196840-22196890	AG04449	skin:	fetal
31	chr12:22196840-22196890	HL-60	blood:	n/a
32	chr12:22196840-22196890	LNCaP	prostate:	n/a
33	chr12:22196840-22196890	AG04450	lung:	fetal
34	chr12:22196840-22196890	ProgFib	skin:	n/a
35	chr12:22196840-22196890	T-47D	breast:	n/a
36	chr12:22196840-22196890	HMEC	breast:	n/a
37	chr12:22196840-22196890	GM19239	blood:	n/a
38	chr12:22196840-22196890	NHBE	bronchial:	n/a
39	chr12:22196840-22196890	SK-N-SH_RA	brain:	n/a
40	chr12:22196840-22196890	A549	lung:	n/a
41	chr12:22196840-22196890	BE2_C	brain:	n/a
42	chr12:22196840-22196890	HEK293	kidney:	embryo
43	chr12:22196840-22196890	SK-N-SH	brain:	n/a
44	chr12:22196840-22196890	AG10803	skin:	n/a
45	chr12:22196840-22196890	PrEC	prostate:	n/a
46	chr12:22196840-22196890	AoSMC	blood vessel:	n/a
47	chr12:22196840-22196890	NT2-D1	testis:	n/a
48	chr12:22196840-22196890	HepG2	liver:	n/a
49	chr12:22196840-22196890	SK-N-MC	brain:	n/a
50	chr12:22196840-22196890	SKMC	muscle:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:22189309..22194681-chr12:22195009..22198971,6	K562	blood:
2	chr12:22189100..22191552-chr12:22195163..22197054,2	K562	blood:

No data

Variant related genes	Relation type
CMAS	TF binding region
CMAS	CpG island

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10770889	1.00[EUR][1000 genomes]
rs11046312	1.00[EUR][1000 genomes]
rs2098439	1.00[EUR][1000 genomes]
rs2909074	1.00[EUR][1000 genomes]
rs2909081	1.00[EUR][1000 genomes]
rs2955502	1.00[EUR][1000 genomes]
rs4072818	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4762875	1.00[EUR][1000 genomes]
rs56796024	1.00[EUR][1000 genomes]
rs6487283	1.00[EUR][1000 genomes]
rs73252077	1.00[EUR][1000 genomes]
rs73252089	1.00[EUR][1000 genomes]
rs7486136	1.00[EUR][1000 genomes]
rs7968117	1.00[EUR][1000 genomes]
rs7974190	1.00[EUR][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	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv438196	chr12:22195202-22234058	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22188200-22199200	Weak transcription	Aorta	Aorta
2	chr12:22188400-22198800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:22192800-22199200	Weak transcription	Placenta	Placenta
4	chr12:22195000-22198600	Enhancers	K562	blood
5	chr12:22195000-22198800	Enhancers	HepG2	liver
6	chr12:22195000-22199000	Enhancers	Fetal Intestine Small	intestine
7	chr12:22195200-22197200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:22195600-22197200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:22195800-22198600	Enhancers	Duodenum Mucosa	Duodenum
10	chr12:22196000-22197400	Weak transcription	Colonic Mucosa	Colon
11	chr12:22196000-22199000	Enhancers	Fetal Intestine Large	intestine
12	chr12:22196200-22197200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:22196200-22197400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:22196200-22197800	Enhancers	Stomach Mucosa	stomach
15	chr12:22196200-22199000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr12:22196400-22197000	Weak transcription	Pancreas	Pancrea
17	chr12:22196400-22197400	Weak transcription	Small Intestine	intestine
18	chr12:22196400-22198200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:22196400-22198600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr12:22196400-22199000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:22196400-22199000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr12:22196400-22199000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:22196400-22199000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:22196400-22199000	Weak transcription	NHLF	lung
25	chr12:22196400-22199200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:22196400-22199200	Weak transcription	HMEC	breast
27	chr12:22196400-22199200	Weak transcription	NH-A	brain
28	chr12:22196600-22197200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr12:22196600-22198800	Weak transcription	Fetal Kidney	kidney
30	chr12:22196600-22199000	Weak transcription	Osteobl	bone
31	chr12:22196600-22199200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:22196800-22197000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:22196800-22197800	Enhancers	A549	lung

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