Variant report

Variant	rs187834664
Chromosome Location	chr12:42984541-42984542
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	chr12:42984500-42984689	MCF-7	breast:	n/a	chr12:42984591-42984609
2	NR2F2	chr12:42984229-42984882	MCF-7	breast:	n/a	n/a
3	CTCF	chr12:42984500-42984650	MCF-7	breast:	n/a	chr12:42984591-42984609
4	CTCF	chr12:42984512-42984684	H1-hESC	embryonic stem cell:	n/a	chr12:42984591-42984609
5	CTCF	chr12:42984480-42984630	HCPEpiC	choroid plexus:	n/a	chr12:42984591-42984609
6	CTCF	chr12:42984460-42984610	A549	lung:	n/a	chr12:42984591-42984609
7	CTCF	chr12:42984520-42984670	HRE	kidney:	n/a	chr12:42984591-42984609
8	CTBP2	chr12:42982768-42984725	H1-hESC	embryonic stem cell:	n/a	n/a
9	SP1	chr12:42984075-42984749	A549	lung:	n/a	chr12:42984232-42984241
10	CTCF	chr12:42984480-42984630	HBMEC	blood vessel:	n/a	chr12:42984591-42984609
11	MXI1	chr12:42982100-42984824	IMR90	lung:	n/a	chr12:42984253-42984268
12	CTCF	chr12:42984520-42984670	MCF-7	breast:	n/a	chr12:42984591-42984609
13	CTCF	chr12:42984440-42984590	AG09319	gingival:	n/a	n/a
14	EP300	chr12:42982235-42984855	ECC-1	luminal epithelium:	n/a	chr12:42982351-42982361 chr12:42983501-42983510 chr12:42983498-42983507 chr12:42984759-42984773
15	CTCF	chr12:42984520-42984670	HMEC	breast:	n/a	chr12:42984591-42984609
16	MYC	chr12:42984218-42984581	MCF10A-Er-Src	breast:	n/a	chr12:42984534-42984544
17	CTCF	chr12:42984511-42984686	MCF-7	breast:	n/a	chr12:42984591-42984609
18	RAD21	chr12:42984288-42984786	H1-hESC	embryonic stem cell:	n/a	chr12:42984597-42984607 chr12:42984597-42984609
19	CTCF	chr12:42984520-42984670	HRPEpiC	eye:	n/a	chr12:42984591-42984609
20	NFIC	chr12:42982719-42984696	ECC-1	luminal epithelium:	n/a	n/a
21	SP1	chr12:42984193-42984547	GM12878	blood:	n/a	chr12:42984232-42984241
22	CTCF	chr12:42984460-42984610	BJ	skin:	n/a	chr12:42984591-42984609
23	CTCF	chr12:42984460-42984610	SAEC	small airway:	n/a	chr12:42984591-42984609
24	CTCF	chr12:42984500-42984650	BJ	skin:	n/a	chr12:42984591-42984609
25	RAD21	chr12:42984339-42984828	ECC-1	luminal epithelium:	n/a	chr12:42984597-42984607 chr12:42984597-42984609
26	POLR2A	chr12:42983191-42984783	ECC-1	luminal epithelium:	n/a	n/a
27	CTCF	chr12:42984500-42984650	HCPEpiC	choroid plexus:	n/a	chr12:42984591-42984609
28	CTCF	chr12:42984520-42984670	AG09309	skin:	n/a	chr12:42984591-42984609
29	CTCF	chr12:42984420-42984570	HFF	foreskin:	n/a	n/a
30	CTCF	chr12:42984440-42984590	AG04449	skin:	n/a	n/a
31	CTCF	chr12:42984531-42984647	GM19239	blood:	n/a	chr12:42984591-42984609
32	RAD21	chr12:42984344-42984799	SK-N-SH_RA	brain:	n/a	chr12:42984597-42984607 chr12:42984597-42984609
33	RAD21	chr12:42983993-42984818	ECC-1	luminal epithelium:	n/a	chr12:42984597-42984607 chr12:42984597-42984609
34	CTCF	chr12:42984509-42984702	NHEK	skin:	n/a	chr12:42984591-42984609
35	POLR2A	chr12:42983362-42984548	MCF10A-Er-Src	breast:	n/a	n/a
36	CTCF	chr12:42984480-42984630	HPF	lung:	n/a	chr12:42984591-42984609
37	TEAD4	chr12:42983012-42984809	ECC-1	luminal epithelium:	n/a	n/a
38	CTCF	chr12:42984520-42984670	RPTEC	kidney:	n/a	chr12:42984591-42984609
39	RAD21	chr12:42984436-42984748	SK-N-SH_RA	brain:	n/a	chr12:42984597-42984607 chr12:42984597-42984609
40	CTCF	chr12:42984538-42984656	Gliobla	brain:	n/a	chr12:42984591-42984609
41	MAZ	chr12:42981376-42985082	IMR90	lung:	n/a	chr12:42983670-42983679 chr12:42984534-42984544
42	CTCF	chr12:42984480-42984630	HUVEC	blood vessel:	n/a	chr12:42984591-42984609
43	TCF7L2	chr12:42984132-42984610	PANC-1	pancreas:	n/a	n/a
44	CTCF	chr12:42984500-42984650	HPAF	blood vessel:	n/a	chr12:42984591-42984609
45	CTCF	chr12:42984536-42984675	MCF-7	breast:	n/a	chr12:42984591-42984609
46	CTCF	chr12:42984536-42984676	GM19238	blood:	n/a	chr12:42984591-42984609
47	MAX	chr12:42982660-42984847	ECC-1	luminal epithelium:	n/a	chr12:42983670-42983679 chr12:42984534-42984544
48	CTCF	chr12:42984540-42984690	AoAF	blood vessel:	n/a	chr12:42984591-42984609
49	CTCF	chr12:42984460-42984610	RPTEC	kidney:	n/a	chr12:42984591-42984609
50	POLR2A	chr12:42983212-42984624	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42984197..42984716-chr12:43676086..43676642,2	MCF-7	breast:

Variant related genes	Relation type
PRICKLE1	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv989438	chr12:42981066-42988699	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3361465	chr12:42982310-42984858	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv3339962	chr12:42982685-42984683	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42980000-42985000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:42981200-42985000	Active TSS	Right Atrium	heart
3	chr12:42981400-42984800	Active TSS	Right Ventricle	heart
4	chr12:42981600-42985000	Active TSS	Fetal Kidney	kidney
5	chr12:42981800-42984600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:42981800-42984800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
7	chr12:42982000-42984800	Active TSS	Aorta	Aorta
8	chr12:42982000-42984800	Active TSS	Left Ventricle	heart
9	chr12:42982000-42984800	Active TSS	Ovary	ovary
10	chr12:42982000-42985000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr12:42982400-42984600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:42982400-42984800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:42982400-42984800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:42982400-42984800	Active TSS	Psoas Muscle	Psoas
15	chr12:42982600-42984600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr12:42982600-42984600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:42982600-42984600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:42982600-42984600	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr12:42982600-42984600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
20	chr12:42982600-42984600	Active TSS	Pancreas	Pancrea
21	chr12:42982600-42984800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr12:42982600-42984800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr12:42982800-42984600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr12:42983000-42984600	Active TSS	Stomach Mucosa	stomach
25	chr12:42983200-42984800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:42983400-42984600	Bivalent/Poised TSS	Thymus	Thymus
27	chr12:42983600-42984800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:42983800-42984600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:42983800-42984600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
30	chr12:42983800-42984600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
31	chr12:42983800-42984600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
32	chr12:42983800-42984600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
33	chr12:42983800-42984800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
34	chr12:42984000-42984600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:42984000-42984600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:42984000-42984600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:42984000-42984600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
38	chr12:42984000-42984600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
39	chr12:42984000-42984600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:42984000-42984600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:42984000-42984600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
42	chr12:42984000-42984600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
43	chr12:42984000-42984600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
44	chr12:42984000-42984600	Active TSS	Fetal Heart	heart
45	chr12:42984000-42984600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
46	chr12:42984000-42984600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
47	chr12:42984000-42984600	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
48	chr12:42984000-42984600	Flanking Active TSS	HMEC	breast
49	chr12:42984000-42984600	Flanking Active TSS	NH-A	brain
50	chr12:42984000-42984800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood

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