Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr12:104277613-104278976	SK-N-SH	brain:	n/a	n/a
2	SPI1	chr12:104277900-104278752	GM12878	blood:	n/a	chr12:104278241-104278254 chr12:104278244-104278253
3	CTCF	chr12:104277847-104278936	A549	lung:	n/a	chr12:104278381-104278394 chr12:104278195-104278211
4	CTCF	chr12:104277906-104278657	SK-N-SH	brain:	n/a	chr12:104278381-104278394 chr12:104278195-104278211
5	RAD21	chr12:104277887-104278558	HCT-116	colon:	n/a	n/a
6	RAD21	chr12:104278011-104278612	GM12878	blood:	n/a	n/a
7	CTCF	chr12:104278420-104278570	BJ	skin:	n/a	n/a
8	MXI1	chr12:104277868-104279101	SK-N-SH	brain:	n/a	n/a
9	SMC3	chr12:104277841-104278611	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104233142..104235484-chr12:104276450..104278828,3	K562	blood:
2	chr12:104276117..104279238-chr12:104322705..104326968,4	K562	blood:
3	chr12:103968788..103969666-chr12:104278125..104278702,2	MCF-7	breast:
4	chr12:104277824..104279928-chr12:104282058..104285020,2	K562	blood:
5	chr12:104277028..104280742-chr12:104283520..104285730,3	K562	blood:
6	chr12:104262529..104265193-chr12:104278298..104280290,2	K562	blood:
7	chr12:104276555..104279337-chr12:104325468..104328815,4	K562	blood:
8	chr12:104233142..104235198-chr12:104276474..104278828,2	K562	blood:
9	chr12:104277459..104278614-chr12:104502651..104503606,5	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10745984	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10778292	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10861130	0.91[ASN][1000 genomes]
rs10861131	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10861142	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs10861143	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs10861146	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11111815	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11111831	0.83[ASN][1000 genomes]
rs1165592	0.82[CEU][hapmap]
rs1165594	0.85[EUR][1000 genomes]
rs12302488	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12371102	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs2722189	0.88[ASW][hapmap];0.95[LWK][hapmap]
rs3812801	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4135138	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs6539103	0.87[ASN][1000 genomes]
rs7302036	0.83[ASN][1000 genomes]
rs7968124	0.87[ASN][1000 genomes]
rs7971317	0.87[ASN][1000 genomes]
rs7971563	0.91[ASN][1000 genomes]
rs9308316	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs9989004	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

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	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	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
3	nsv977145	chr12:104273790-104283207	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104275000-104281600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr12:104276800-104278800	Enhancers	GM12878-XiMat	blood
3	chr12:104278200-104278600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr12:104278200-104278600	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr12:104278200-104278600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:104278200-104278600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:104278200-104278600	Enhancers	Aorta	Aorta
8	chr12:104278200-104279200	Enhancers	Thymus	Thymus
9	chr12:104278200-104285800	Enhancers	Fetal Thymus	thymus

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