Variant report

Variant	rs191960881
Chromosome Location	chr12:104360666-104360667
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	HCFC1	chr12:104358419-104361266	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr12:104358808-104360710	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:104358597-104361078	MCF10A-Er-Src	breast:	n/a	n/a
4	MAZ	chr12:104358383-104360788	IMR90	lung:	n/a	chr12:104359744-104359751 chr12:104359568-104359577 chr12:104358870-104358879 chr12:104359407-104359416 chr12:104359568-104359577
5	CHD1	chr12:104358841-104360867	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr12:104358195-104361110	GM12891	blood:	n/a	n/a
7	POLR2A	chr12:104360618-104361287	H1-hESC	embryonic stem cell:	n/a	n/a
8	MXI1	chr12:104358665-104360949	IMR90	lung:	n/a	n/a
9	POLR2A	chr12:104359016-104360746	Hela-S3	cervix:	n/a	n/a
10	SIN3A	chr12:104359140-104360829	H1-hESC	embryonic stem cell:	n/a	chr12:104360223-104360232 chr12:104359845-104359858 chr12:104359389-104359402
11	CTCF	chr12:104360600-104360750	AG04449	skin:	n/a	n/a
12	IRF1	chr12:104359260-104360670	K562	blood:	n/a	n/a
13	POLR2A	chr12:104358580-104360717	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr12:104360645-104360683	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104323659..104328405-chr12:104357607..104360751,5	MCF-7	breast:
2	chr12:104319225..104328292-chr12:104356282..104362179,14	K562	blood:
3	chr12:104356409..104362053-chr12:104528975..104533138,7	MCF-7	breast:
4	chr12:104358555..104361363-chr12:104388778..104391446,2	MCF-7	breast:
5	chr12:104359553..104362361-chr12:104443780..104446717,2	K562	blood:
6	chr12:104322943..104325215-chr12:104358408..104360868,4	MCF-7	breast:
7	chr12:104360101..104362239-chr12:104530545..104532165,2	MCF-7	breast:
8	chr12:104328917..104332179-chr12:104357230..104361045,4	MCF-7	breast:
9	chr12:104298405..104301396-chr12:104359031..104361017,2	K562	blood:
10	chr12:104233429..104235958-chr12:104358438..104361946,3	MCF-7	breast:
11	chr12:102510855..102512497-chr12:104358534..104361115,2	K562	blood:
12	chr12:104359459..104362433-chr12:104679529..104682592,4	K562	blood:

Variant related genes	Relation type
C12orf73	TF binding region
ENSG00000257327	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000120837	Chromatin interaction
ENSG00000265072	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000111696	Chromatin interaction
ENSG00000075188	Chromatin interaction
ENSG00000120820	Chromatin interaction
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv1799879	chr12:104351057-104360713	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	n/a
4	esv3359723	chr12:104359646-104370785	Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104357800-104361200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:104358000-104360800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr12:104358200-104361200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:104358400-104360800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:104358400-104360800	Active TSS	Fetal Muscle Trunk	muscle
6	chr12:104358400-104360800	Active TSS	Ovary	ovary
7	chr12:104358400-104361000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr12:104358400-104361000	Active TSS	Fetal Intestine Large	intestine
9	chr12:104358400-104361200	Active TSS	Psoas Muscle	Psoas
10	chr12:104358600-104360800	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr12:104358600-104360800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr12:104358600-104360800	Active TSS	Muscle Satellite Cultured Cells	--
13	chr12:104358600-104360800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:104358600-104360800	Active TSS	Aorta	Aorta
15	chr12:104358600-104360800	Active TSS	A549	lung
16	chr12:104358600-104360800	Active TSS	NHDF-Ad	bronchial
17	chr12:104358600-104361000	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr12:104358600-104361000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:104358600-104361000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:104358600-104361000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:104358600-104361000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:104358600-104361200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:104358600-104361200	Active TSS	Fetal Intestine Small	intestine
24	chr12:104358600-104361200	Active TSS	Right Atrium	heart
25	chr12:104358600-104361400	Active TSS	HSMMtube	muscle
26	chr12:104358600-104361600	Active TSS	GM12878-XiMat	blood
27	chr12:104358600-104363600	Active TSS	Right Ventricle	heart
28	chr12:104358800-104360800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr12:104358800-104360800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:104358800-104360800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:104358800-104360800	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr12:104358800-104360800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:104358800-104360800	Active TSS	Placenta Amnion	Placenta Amnion
34	chr12:104358800-104361000	Active TSS	HMEC	breast
35	chr12:104358800-104361000	Active TSS	NHLF	lung
36	chr12:104358800-104361200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:104358800-104361200	Active TSS	Left Ventricle	heart
38	chr12:104358800-104361600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:104359000-104360800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:104359000-104360800	Active TSS	Esophagus	oesophagus
41	chr12:104359000-104360800	Active TSS	Fetal Heart	heart
42	chr12:104359000-104360800	Active TSS	Lung	lung
43	chr12:104359000-104361600	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr12:104360000-104360800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr12:104360000-104361000	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr12:104360000-104361000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:104360000-104361000	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr12:104360000-104361200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:104360200-104360800	Flanking Active TSS	Fetal Thymus	thymus
50	chr12:104360200-104361000	Flanking Active TSS	Primary B cells from cord blood	blood

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