Variant report

Variant	rs544895208
Chromosome Location	chr12:104301639-104301640
allele	A/G
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	BCLAF1	chr12:104301482-104301808	GM12878	blood:	n/a	n/a
2	TEAD4	chr12:104301411-104301755	K562	blood:	n/a	n/a
3	POU2F2	chr12:104301173-104301973	GM12891	blood:	n/a	chr12:104301390-104301403 chr12:104301396-104301406 chr12:104301395-104301407 chr12:104301390-104301403 chr12:104301393-104301407 chr12:104301391-104301405 chr12:104301394-104301407 chr12:104301390-104301403 chr12:104301389-104301410 chr12:104301396-104301406 chr12:104301394-104301405 chr12:104301391-104301409 chr12:104301395-104301405
4	ATF2	chr12:104301405-104301831	GM12878	blood:	n/a	n/a
5	BCLAF1	chr12:104301478-104301813	K562	blood:	n/a	n/a
6	POLR2A	chr12:104301412-104302006	GM12892	blood:	n/a	n/a
7	POLR2A	chr12:104301213-104302168	GM12878	blood:	n/a	n/a
8	HEY1	chr12:104301555-104301842	K562	blood:	n/a	n/a
9	POLR2A	chr12:104301137-104302264	GM12891	blood:	n/a	n/a
10	TBP	chr12:104301370-104301807	K562	blood:	n/a	n/a
11	POLR2A	chr12:104301517-104301837	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr12:104301625-104301784	H1-hESC	embryonic stem cell:	n/a	n/a
13	POU2F2	chr12:104301115-104301910	GM12878	blood:	n/a	chr12:104301390-104301403 chr12:104301396-104301406 chr12:104301395-104301407 chr12:104301390-104301403 chr12:104301393-104301407 chr12:104301391-104301405 chr12:104301394-104301407 chr12:104301390-104301403 chr12:104301389-104301410 chr12:104301396-104301406 chr12:104301394-104301405 chr12:104301391-104301409 chr12:104301395-104301405
14	POLR2A	chr12:104301569-104301924	GM12892	blood:	n/a	n/a
15	TAF7	chr12:104301430-104301789	K562	blood:	n/a	n/a
16	BCLAF1	chr12:104301201-104301831	GM12878	blood:	n/a	n/a
17	TAF7	chr12:104301561-104301760	K562	blood:	n/a	n/a
18	POLR2A	chr12:104301595-104301968	K562	blood:	n/a	n/a
19	POLR2A	chr12:104301315-104302418	GM12892	blood:	n/a	n/a
20	PML	chr12:104301504-104301775	GM12878	blood:	n/a	n/a
21	CEBPB	chr12:104301421-104301753	K562	blood:	n/a	n/a
22	POLR2A	chr12:104301539-104302029	K562	blood:	n/a	n/a
23	POLR2A	chr12:104301600-104301767	H1-hESC	embryonic stem cell:	n/a	n/a
24	EP300	chr12:104301442-104301743	GM12878	blood:	n/a	n/a
25	POLR2A	chr12:104301355-104301997	GM12891	blood:	n/a	n/a
26	PML	chr12:104301253-104302128	GM12878	blood:	n/a	n/a
27	POU2F2	chr12:104301226-104301892	GM12878	blood:	n/a	chr12:104301390-104301403 chr12:104301396-104301406 chr12:104301395-104301407 chr12:104301390-104301403 chr12:104301393-104301407 chr12:104301391-104301405 chr12:104301394-104301407 chr12:104301390-104301403 chr12:104301389-104301410 chr12:104301396-104301406 chr12:104301394-104301405 chr12:104301391-104301409 chr12:104301395-104301405
28	POLR2A	chr12:104301277-104302096	GM18505	blood:	n/a	n/a
29	POLR2A	chr12:104301350-104301869	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr12:104301538-104301797	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr12:104301353-104302080	GM12878	blood:	n/a	n/a
32	POLR2A	chr12:104301441-104301798	K562	blood:	n/a	n/a
33	POLR2A	chr12:104301315-104302343	GM12892	blood:	n/a	n/a
34	POLR2A	chr12:104301568-104301770	GM12878	blood:	n/a	n/a
35	TCF3	chr12:104301607-104301796	GM12878	blood:	n/a	n/a
36	POLR2A	chr12:104301395-104302291	GM12892	blood:	n/a	n/a
37	POLR2A	chr12:104301500-104301998	GM12891	blood:	n/a	n/a
38	POLR2A	chr12:104301378-104301824	PANC-1	pancreas:	n/a	n/a
39	RUNX3	chr12:104301135-104301811	GM12878	blood:	n/a	n/a
40	CEBPB	chr12:104301369-104301788	K562	blood:	n/a	n/a
41	POLR2A	chr12:104301189-104302266	GM12891	blood:	n/a	n/a
42	POLR2A	chr12:104301580-104301829	GM12878	blood:	n/a	n/a
43	POLR2A	chr12:104301240-104302222	GM12878	blood:	n/a	n/a
44	MTA3	chr12:104301288-104301972	GM12878	blood:	n/a	n/a
45	POLR2A	chr12:104301538-104301862	Hela-S3	cervix:	n/a	n/a
46	POU2F2	chr12:104301556-104301827	GM12878	blood:	n/a	n/a
47	POLR2A	chr12:104301609-104301831	GM12878	blood:	n/a	n/a
48	NFATC1	chr12:104301287-104301917	GM12878	blood:	n/a	n/a
49	NFIC	chr12:104301190-104301952	GM12878	blood:	n/a	n/a
50	POLR2A	chr12:104301527-104301861	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104300678..104303599-chr12:104319392..104323559,4	K562	blood:
2	chr12:104300942..104303237-chr12:104305354..104306983,2	K562	blood:
3	chr12:104296301..104298365-chr12:104301480..104303104,2	K562	blood:
4	chr12:104299931..104303136-chr12:104307150..104309681,4	K562	blood:
5	chr12:104301059..104305002-chr12:104308299..104311769,5	K562	blood:
6	chr12:104298858..104303101-chr12:104321689..104325332,4	K562	blood:
7	chr12:104301536..104303979-chr12:104529834..104532594,2	K562	blood:
8	chr12:104296301..104297835-chr12:104301480..104303235,2	K562	blood:
9	chr12:104300652..104303185-chr12:104457889..104460360,2	K562	blood:

Variant related genes	Relation type
ENSG00000214198	TF binding region
ENSG00000120837	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000265072	Chromatin interaction
ENSG00000120820	Chromatin interaction
ENSG00000111727	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv3344053	chr12:104299847-104302395	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
3	esv3388506	chr12:104300622-104301720	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104295800-104303000	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr12:104295800-104303200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr12:104295800-104303800	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr12:104299400-104303000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:104299600-104302000	Enhancers	NHEK	skin
6	chr12:104299600-104302600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr12:104299800-104301800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr12:104299800-104303000	Enhancers	Fetal Thymus	thymus
9	chr12:104300400-104302000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:104300600-104302200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:104301000-104303600	Weak transcription	Spleen	Spleen
12	chr12:104301200-104301800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr12:104301200-104301800	Enhancers	NHDF-Ad	bronchial
14	chr12:104301400-104301800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:104301400-104301800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:104301400-104301800	Flanking Active TSS	GM12878-XiMat	blood
17	chr12:104301400-104301800	Enhancers	Osteobl	bone
18	chr12:104301400-104302400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:104301400-104302400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:104301400-104302400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:104301400-104302800	Enhancers	Primary T cells fromperipheralblood	blood
22	chr12:104301400-104304200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:104301400-104304200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:104301400-104304200	Enhancers	HMEC	breast
25	chr12:104301400-104304400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr12:104301400-104304400	Enhancers	HSMMtube	muscle
27	chr12:104301600-104302200	Weak transcription	HSMM	muscle
28	chr12:104301600-104302400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:104301600-104302400	Enhancers	Thymus	Thymus
30	chr12:104301600-104302600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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