Variant report

Variant	rs149848693
Chromosome Location	chr12:42984216-42984217
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	CTBP2	chr12:42982768-42984725	H1-hESC	embryonic stem cell:	n/a	n/a
2	SP1	chr12:42984075-42984749	A549	lung:	n/a	chr12:42984232-42984241
3	MXI1	chr12:42982100-42984824	IMR90	lung:	n/a	chr12:42984253-42984268
4	EP300	chr12:42982235-42984855	ECC-1	luminal epithelium:	n/a	chr12:42982351-42982361 chr12:42983501-42983510 chr12:42983498-42983507 chr12:42984759-42984773
5	GATA2	chr12:42983633-42984242	HUVEC	blood vessel:	n/a	n/a
6	NFIC	chr12:42982719-42984696	ECC-1	luminal epithelium:	n/a	n/a
7	SP1	chr12:42984193-42984547	GM12878	blood:	n/a	chr12:42984232-42984241
8	POLR2A	chr12:42983191-42984783	ECC-1	luminal epithelium:	n/a	n/a
9	RAD21	chr12:42983993-42984818	ECC-1	luminal epithelium:	n/a	chr12:42984597-42984607 chr12:42984597-42984609
10	POLR2A	chr12:42983362-42984548	MCF10A-Er-Src	breast:	n/a	n/a
11	TEAD4	chr12:42983012-42984809	ECC-1	luminal epithelium:	n/a	n/a
12	MAZ	chr12:42981376-42985082	IMR90	lung:	n/a	chr12:42983670-42983679 chr12:42984534-42984544
13	TCF7L2	chr12:42984132-42984610	PANC-1	pancreas:	n/a	n/a
14	ZNF384	chr12:42983523-42984226	K562	blood:	n/a	n/a
15	MAX	chr12:42982660-42984847	ECC-1	luminal epithelium:	n/a	chr12:42983670-42983679 chr12:42984534-42984544
16	ZNF263	chr12:42981422-42984401	HEK293-T-REx	kidney:	n/a	chr12:42982475-42982496
17	POLR2A	chr12:42983212-42984624	HUVEC	blood vessel:	n/a	n/a
18	TCF12	chr12:42983986-42984953	ECC-1	luminal epithelium:	n/a	n/a
19	SMC3	chr12:42982437-42984934	SK-N-SH	brain:	n/a	chr12:42982812-42982819 chr12:42984593-42984607 chr12:42982868-42982882
20	SP1	chr12:42984039-42984669	A549	lung:	n/a	chr12:42984232-42984241
21	RAD21	chr12:42981077-42985218	SK-N-SH	brain:	n/a	chr12:42983223-42983235 chr12:42982867-42982886 chr12:42984597-42984607 chr12:42984597-42984609
22	TAF1	chr12:42982944-42984815	ECC-1	luminal epithelium:	n/a	n/a
23	TAF1	chr12:42983032-42984604	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr12:42983361-42984689	MCF10A-Er-Src	breast:	n/a	n/a
25	MAX	chr12:42982586-42984897	ECC-1	luminal epithelium:	n/a	chr12:42983670-42983679 chr12:42984534-42984544
26	MXI1	chr12:42980685-42985161	SK-N-SH	brain:	n/a	chr12:42984253-42984268
27	CTCF	chr12:42984160-42984310	GM12866	blood:	n/a	n/a
28	RAD21	chr12:42983860-42984800	H1-hESC	embryonic stem cell:	n/a	chr12:42984597-42984607 chr12:42984597-42984609
29	ZBTB7A	chr12:42982586-42984766	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr12:42980860-42984627	HUVEC	blood vessel:	n/a	n/a
31	MAX	chr12:42982680-42984684	A549	lung:	n/a	chr12:42983670-42983679 chr12:42984534-42984544
32	POLR2A	chr12:42982765-42984752	ECC-1	luminal epithelium:	n/a	n/a
33	KAP1	chr12:42983881-42984910	HEK293	kidney:	n/a	n/a
34	SIN3A	chr12:42982670-42984829	H1-hESC	embryonic stem cell:	n/a	chr12:42983657-42983668 chr12:42983657-42983670
35	ZBTB7A	chr12:42983585-42984809	ECC-1	luminal epithelium:	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:123 , 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	chr12:42981600-42984400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr12:42981600-42985000	Active TSS	Fetal Kidney	kidney
6	chr12:42981800-42984600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:42981800-42984800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
8	chr12:42982000-42984800	Active TSS	Aorta	Aorta
9	chr12:42982000-42984800	Active TSS	Left Ventricle	heart
10	chr12:42982000-42984800	Active TSS	Ovary	ovary
11	chr12:42982000-42985000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr12:42982200-42984400	Active TSS	Rectal Smooth Muscle	rectum
13	chr12:42982400-42984400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:42982400-42984400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr12:42982400-42984400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:42982400-42984600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:42982400-42984800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:42982400-42984800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:42982400-42984800	Active TSS	Psoas Muscle	Psoas
20	chr12:42982600-42984400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:42982600-42984400	Bivalent/Poised TSS	A549	lung
22	chr12:42982600-42984600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr12:42982600-42984600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:42982600-42984600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:42982600-42984600	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr12:42982600-42984600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
27	chr12:42982600-42984600	Active TSS	Pancreas	Pancrea
28	chr12:42982600-42984800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
29	chr12:42982600-42984800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr12:42982800-42984400	Active TSS	Gastric	stomach
31	chr12:42982800-42984600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr12:42983000-42984400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:42983000-42984600	Active TSS	Stomach Mucosa	stomach
34	chr12:42983200-42984800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:42983400-42984400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:42983400-42984600	Bivalent/Poised TSS	Thymus	Thymus
37	chr12:42983600-42984800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:42983800-42984400	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:42983800-42984400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
40	chr12:42983800-42984400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
41	chr12:42983800-42984600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:42983800-42984600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
43	chr12:42983800-42984600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
44	chr12:42983800-42984600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
45	chr12:42983800-42984600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
46	chr12:42983800-42984800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
47	chr12:42984000-42984400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
48	chr12:42984000-42984400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
49	chr12:42984000-42984400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
50	chr12:42984000-42984400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--

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