Variant report

Variant	rs12207102
Chromosome Location	chr6:144357196-144357197
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	CTCF	chr6:144357160-144357310	GM12871	blood:	n/a	chr6:144357226-144357235
2	CTCF	chr6:144357100-144357250	GM12864	blood:	n/a	chr6:144357226-144357235
3	CTCF	chr6:144357120-144357270	AG10803	skin:	n/a	chr6:144357226-144357235
4	CTCF	chr6:144357184-144357317	K562	blood:	n/a	chr6:144357226-144357235
5	CTCF	chr6:144357140-144357290	GM12872	blood:	n/a	chr6:144357226-144357235
6	MXI1	chr6:144357148-144358050	IMR90	lung:	n/a	n/a
7	CTCF	chr6:144357120-144357270	Caco-2	colon:	n/a	chr6:144357226-144357235
8	SPI1	chr6:144357102-144357644	HL-60	blood:	n/a	chr6:144357353-144357360

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144262341..144262963-chr6:144356949..144357737,2	MCF-7	breast:
2	chr6:144355070..144357503-chr6:144413513..144415682,2	K562	blood:

Variant related genes	Relation type
ENSG00000217231	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11155340	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12175856	1.00[YRI][hapmap]
rs1983773	1.00[YRI][hapmap]
rs2064660	0.85[ASN][1000 genomes]
rs2328542	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2328564	1.00[YRI][hapmap]
rs4896693	0.92[ASN][1000 genomes]
rs6570602	0.86[CEU][hapmap];0.86[CHB][hapmap]
rs6901529	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6929575	0.91[ASN][1000 genomes]
rs7743691	0.99[ASN][1000 genomes]
rs7752303	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs7772820	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9321957	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs9321958	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9321960	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs9321961	0.85[CHB][hapmap]
rs9386055	0.84[ASN][1000 genomes]
rs9390157	1.00[YRI][hapmap]
rs9496839	0.88[ASN][1000 genomes]
rs9496860	0.85[CHB][hapmap]

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	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3522138	chr6:144174685-144367463	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3522139	chr6:144174685-144367463	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830830	chr6:144177942-144380870	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144351000-144357400	Weak transcription	Fetal Kidney	kidney
2	chr6:144353600-144357400	Weak transcription	Right Atrium	heart
3	chr6:144355000-144357400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr6:144355200-144357200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:144355200-144357200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:144355200-144357200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:144355400-144357200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:144355400-144357200	Weak transcription	NHLF	lung
9	chr6:144355600-144357200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:144355600-144357200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:144355600-144357200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:144355600-144357400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:144355600-144357400	Weak transcription	Aorta	Aorta
14	chr6:144355600-144359800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:144355800-144357200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:144355800-144357200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr6:144355800-144357400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:144356000-144357200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:144356200-144357200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:144356200-144357200	Weak transcription	Osteobl	bone
21	chr6:144356600-144357200	Enhancers	Primary B cells from cord blood	blood
22	chr6:144356600-144357800	Enhancers	Lung	lung
23	chr6:144356600-144358200	Enhancers	Spleen	Spleen
24	chr6:144356800-144357200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:144356800-144357200	Enhancers	NHDF-Ad	bronchial
26	chr6:144356800-144357400	Enhancers	Placenta	Placenta
27	chr6:144356800-144357600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr6:144356800-144358000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:144356800-144358400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr6:144356800-144358400	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr6:144357000-144357200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr6:144357000-144357200	Enhancers	Adipose Nuclei	Adipose
33	chr6:144357000-144357200	Enhancers	Brain Hippocampus Middle	brain
34	chr6:144357000-144357200	Enhancers	Colonic Mucosa	Colon
35	chr6:144357000-144357200	Enhancers	Duodenum Mucosa	Duodenum
36	chr6:144357000-144357200	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr6:144357000-144357200	Enhancers	GM12878-XiMat	blood
38	chr6:144357000-144357400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr6:144357000-144357400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:144357000-144357400	Enhancers	Left Ventricle	heart
41	chr6:144357000-144357400	Enhancers	Thymus	Thymus
42	chr6:144357000-144357600	Enhancers	Brain Cingulate Gyrus	brain
43	chr6:144357000-144357800	Enhancers	Primary T cells fromperipheralblood	blood
44	chr6:144357000-144357800	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr6:144357000-144357800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:144357000-144357800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr6:144357000-144357800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:144357000-144358000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:144357000-144358200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr6:144357000-144358400	Enhancers	Primary B cells from peripheral blood	blood

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