Variant report

Variant	rs150862549
Chromosome Location	chr12:1704532-1704533
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	RCOR1	chr12:1703405-1704727	K562	blood:	n/a	n/a
2	MAZ	chr12:1703066-1704776	K562	blood:	n/a	chr12:1703239-1703249 chr12:1704066-1704075 chr12:1703785-1703795
3	MAZ	chr12:1701409-1704769	IMR90	lung:	n/a	chr12:1703239-1703249 chr12:1704066-1704075 chr12:1703785-1703795
4	UBTF	chr12:1701676-1704682	K562	blood:	n/a	n/a
5	CTCF	chr12:1704520-1704670	GM12864	blood:	n/a	n/a
6	MAX	chr12:1701918-1704587	A549	lung:	n/a	chr12:1703239-1703249 chr12:1704066-1704075 chr12:1703785-1703795
7	SREBP1	chr12:1703347-1704797	GM12878	blood:	n/a	chr12:1704368-1704379 chr12:1704065-1704079 chr12:1704066-1704080
8	POLR2A	chr12:1701557-1704680	GM12878	blood:	n/a	n/a
9	CTCF	chr12:1704520-1704670	AG04450	lung:	n/a	n/a
10	CTCF	chr12:1704480-1704630	AG04449	skin:	n/a	n/a
11	CHD1	chr12:1701397-1706266	IMR90	lung:	n/a	chr12:1703237-1703247 chr12:1704434-1704444 chr12:1703259-1703269 chr12:1703926-1703936
12	ZBTB7A	chr12:1703773-1704688	ECC-1	luminal epithelium:	n/a	n/a
13	WRNIP1	chr12:1704128-1704668	GM12878	blood:	n/a	n/a
14	TCF12	chr12:1703801-1704549	A549	lung:	n/a	chr12:1704433-1704443
15	RUNX3	chr12:1703890-1704548	GM12878	blood:	n/a	n/a
16	SIN3A	chr12:1701627-1704836	H1-hESC	embryonic stem cell:	n/a	chr12:1702014-1702023
17	MAX	chr12:1703910-1704658	H1-hESC	embryonic stem cell:	n/a	chr12:1704066-1704075
18	MAX	chr12:1702579-1704714	ECC-1	luminal epithelium:	n/a	chr12:1703239-1703249 chr12:1704066-1704075 chr12:1703785-1703795
19	MTA3	chr12:1703895-1704623	GM12878	blood:	n/a	n/a
20	POLR2A	chr12:1701556-1704552	GM18505	blood:	n/a	n/a
21	POLR2A	chr12:1702711-1704765	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F6	chr12:1702057-1704765	K562	blood:	n/a	chr12:1704131-1704140 chr12:1703266-1703275
23	MAX	chr12:1703462-1704588	K562	blood:	n/a	chr12:1704066-1704075 chr12:1703785-1703795
24	MXI1	chr12:1701399-1704818	SK-N-SH	brain:	n/a	chr12:1704064-1704079 chr12:1704066-1704081
25	POLR2A	chr12:1701586-1704853	H1-neurons	neurons:	n/a	n/a
26	JUND	chr12:1702886-1704649	GM12878	blood:	n/a	n/a
27	MYC	chr12:1703288-1704637	K562	blood:	n/a	chr12:1704066-1704075 chr12:1703785-1703795
28	MAZ	chr12:1702969-1704545	GM12878	blood:	n/a	chr12:1703239-1703249 chr12:1704066-1704075 chr12:1703785-1703795
29	ZBTB7A	chr12:1703830-1704558	ECC-1	luminal epithelium:	n/a	n/a
30	REST	chr12:1701278-1704869	H1-neurons	neurons:	n/a	chr12:1701806-1701814 chr12:1701742-1701755
31	RCOR1	chr12:1703866-1704560	GM12878	blood:	n/a	n/a
32	EP300	chr12:1703913-1704751	K562	blood:	n/a	chr12:1704124-1704140 chr12:1704137-1704153 chr12:1704578-1704587
33	POLR2A	chr12:1701605-1704746	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr12:1701560-1704748	GM12878	blood:	n/a	n/a
35	EP300	chr12:1703947-1704682	GM12878	blood:	n/a	chr12:1704124-1704140 chr12:1704137-1704153 chr12:1704578-1704587
36	JUND	chr12:1701464-1704661	SK-N-SH	brain:	n/a	n/a
37	EP300	chr12:1702734-1704546	ECC-1	luminal epithelium:	n/a	chr12:1704124-1704140 chr12:1704137-1704153 chr12:1703867-1703876 chr12:1703272-1703281 chr12:1703814-1703823 chr12:1703244-1703260
38	POLR2A	chr12:1701484-1705051	GM12891	blood:	n/a	n/a
39	POLR2A	chr12:1701517-1704736	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:1224466..1226137-chr12:1702484..1704918,2	MCF-7	breast:
2	chr12:1700363..1702369-chr12:1703399..1707703,4	K562	blood:
3	chr12:1703565..1707939-chr12:1709383..1712701,6	MCF-7	breast:
4	chr12:1703157..1705505-chr12:1739226..1741204,2	MCF-7	breast:
5	chr12:547432..549780-chr12:1702241..1704941,2	MCF-7	breast:
6	chr12:1703685..1705372-chr12:1898619..1900530,2	K562	blood:

Variant related genes	Relation type
FBXL14	TF binding region
ENSG00000111186	Chromatin interaction
ENSG00000082805	Chromatin interaction
ENSG00000171823	Chromatin interaction
ENSG00000120647	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv3397478	chr12:1535455-1730159	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv826180	chr12:1614395-1759431	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv826181	chr12:1619798-1754941	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv898586	chr12:1690140-1734365	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv3438770	chr12:1701716-1704664	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	nsv556986	chr12:1702470-1705852	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	esv3403028	chr12:1702616-1704989	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	esv1834423	chr12:1703324-1727170	Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1700800-1704600	Active TSS	Ovary	ovary
2	chr12:1701000-1704800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:1701800-1704600	Active TSS	Small Intestine	intestine
4	chr12:1702400-1705000	Active TSS	Right Atrium	heart
5	chr12:1702600-1704600	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr12:1702600-1704600	Active TSS	Fetal Brain Female	brain
7	chr12:1702600-1704600	Active TSS	Left Ventricle	heart
8	chr12:1702600-1704600	Active TSS	Psoas Muscle	Psoas
9	chr12:1702600-1705200	Active TSS	Aorta	Aorta
10	chr12:1702800-1704600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:1702800-1704600	Active TSS	Brain Substantia Nigra	brain
12	chr12:1702800-1704600	Active TSS	Esophagus	oesophagus
13	chr12:1702800-1705000	Active TSS	HSMMtube	muscle
14	chr12:1703000-1704600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:1703000-1704600	Active TSS	Brain Hippocampus Middle	brain
16	chr12:1703000-1704600	Active TSS	Pancreas	Pancrea
17	chr12:1703000-1704600	Active TSS	Right Ventricle	heart
18	chr12:1703000-1704600	Active TSS	K562	blood
19	chr12:1703200-1704600	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr12:1703200-1704600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:1703200-1704600	Active TSS	Fetal Muscle Trunk	muscle
22	chr12:1703200-1704800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr12:1703200-1704800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:1704000-1704600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr12:1704000-1704600	Flanking Active TSS	Placenta	Placenta
26	chr12:1704000-1704800	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr12:1704000-1704800	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr12:1704000-1704800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr12:1704000-1704800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:1704000-1705000	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr12:1704000-1705600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:1704200-1704600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:1704200-1704600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:1704200-1704600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:1704200-1704600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:1704200-1704600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr12:1704200-1704600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr12:1704200-1704600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:1704200-1704800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:1704200-1704800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:1704200-1704800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr12:1704200-1704800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:1704200-1704800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr12:1704200-1704800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr12:1704200-1704800	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr12:1704200-1704800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:1704200-1704800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr12:1704200-1704800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr12:1704200-1704800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:1704200-1704800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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