Variant report

Variant	rs375644606
Chromosome Location	chr12:1704750-1704751
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	MAZ	chr12:1703066-1704776	K562	blood:	n/a	chr12:1703239-1703249 chr12:1704066-1704075 chr12:1703785-1703795
2	MAZ	chr12:1701409-1704769	IMR90	lung:	n/a	chr12:1703239-1703249 chr12:1704066-1704075 chr12:1703785-1703795
3	SREBP1	chr12:1703347-1704797	GM12878	blood:	n/a	chr12:1704368-1704379 chr12:1704065-1704079 chr12:1704066-1704080
4	CHD1	chr12:1701397-1706266	IMR90	lung:	n/a	chr12:1703237-1703247 chr12:1704434-1704444 chr12:1703259-1703269 chr12:1703926-1703936
5	CUX1	chr12:1704697-1705032	K562	blood:	n/a	n/a
6	SIN3A	chr12:1701627-1704836	H1-hESC	embryonic stem cell:	n/a	chr12:1702014-1702023
7	POLR2A	chr12:1702711-1704765	MCF10A-Er-Src	breast:	n/a	n/a
8	E2F6	chr12:1702057-1704765	K562	blood:	n/a	chr12:1704131-1704140 chr12:1703266-1703275
9	MXI1	chr12:1701399-1704818	SK-N-SH	brain:	n/a	chr12:1704064-1704079 chr12:1704066-1704081
10	POLR2A	chr12:1701586-1704853	H1-neurons	neurons:	n/a	n/a
11	CTCF	chr12:1704640-1704790	AG09309	skin:	n/a	n/a
12	REST	chr12:1701278-1704869	H1-neurons	neurons:	n/a	chr12:1701806-1701814 chr12:1701742-1701755
13	EP300	chr12:1703913-1704751	K562	blood:	n/a	chr12:1704124-1704140 chr12:1704137-1704153 chr12:1704578-1704587
14	CTCF	chr12:1704600-1704750	AG10803	skin:	n/a	n/a
15	TBL1XR1	chr12:1704706-1704760	K562	blood:	n/a	n/a
16	POLR2A	chr12:1701484-1705051	GM12891	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
ENSG00000082805	Chromatin interaction
ENSG00000120647	Chromatin interaction
ENSG00000171823	Chromatin interaction
ENSG00000111186	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
10	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
11	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	chr12:1701000-1704800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:1702400-1705000	Active TSS	Right Atrium	heart
3	chr12:1702600-1705200	Active TSS	Aorta	Aorta
4	chr12:1702800-1705000	Active TSS	HSMMtube	muscle
5	chr12:1703200-1704800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr12:1703200-1704800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:1704000-1704800	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr12:1704000-1704800	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr12:1704000-1704800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr12:1704000-1704800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:1704000-1705000	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr12:1704000-1705600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:1704200-1704800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:1704200-1704800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:1704200-1704800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr12:1704200-1704800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:1704200-1704800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr12:1704200-1704800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr12:1704200-1704800	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr12:1704200-1704800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:1704200-1704800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr12:1704200-1704800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr12:1704200-1704800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:1704200-1704800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr12:1704200-1704800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:1704200-1704800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:1704200-1704800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:1704200-1704800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr12:1704200-1704800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:1704200-1704800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr12:1704200-1704800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:1704200-1704800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:1704200-1704800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:1704200-1704800	Flanking Active TSS	Liver	Liver
35	chr12:1704200-1704800	Flanking Active TSS	Colonic Mucosa	Colon
36	chr12:1704200-1704800	Flanking Active TSS	Fetal Brain Male	brain
37	chr12:1704200-1704800	Flanking Active TSS	Fetal Intestine Large	intestine
38	chr12:1704200-1704800	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr12:1704200-1704800	Flanking Active TSS	Fetal Thymus	thymus
40	chr12:1704200-1704800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr12:1704200-1704800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr12:1704200-1704800	Flanking Active TSS	Stomach Mucosa	stomach
43	chr12:1704200-1704800	Flanking Active TSS	Dnd41	blood
44	chr12:1704200-1704800	Flanking Active TSS	GM12878-XiMat	blood
45	chr12:1704200-1704800	Flanking Active TSS	Hela-S3	cervix
46	chr12:1704200-1704800	Flanking Active TSS	HMEC	breast
47	chr12:1704200-1704800	Flanking Active TSS	HUVEC	blood vessel
48	chr12:1704200-1704800	Flanking Active TSS	NH-A	brain
49	chr12:1704200-1704800	Flanking Active TSS	NHEK	skin
50	chr12:1704200-1705000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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