Variant report

Variant	rs2005455
Chromosome Location	chr12:121128699-121128700
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr12:121128596-121128706	MCF10A-Er-Src	breast:	n/a	n/a
2	WRNIP1	chr12:121128627-121129120	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121127233..121131774-chr12:121146015..121149455,5	MCF-7	breast:
2	chr12:121092373..121094051-chr12:121128187..121130355,2	MCF-7	breast:
3	chr12:121128598..121131378-chr12:121142040..121143642,2	K562	blood:
4	chr12:121083368..121085683-chr12:121126949..121129432,2	MCF-7	breast:
5	chr12:121126786..121129760-chr12:121147311..121149770,4	MCF-7	breast:

No data

Variant related genes	Relation type
MLEC	TF binding region
ENSG00000157782	Chromatin interaction
ENSG00000175970	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10431384	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10431385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10431386	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10849778	0.86[YRI][hapmap]
rs1814851	0.83[EUR][1000 genomes]
rs2239760	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2393778	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2948149	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3021338	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34734847	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35360964	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3752531	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3829290	0.83[EUR][1000 genomes]
rs548093	0.80[EUR][1000 genomes]
rs556001	0.80[EUR][1000 genomes]
rs55730005	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56273049	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6490300	0.87[EUR][1000 genomes]
rs695948	0.80[EUR][1000 genomes]
rs695949	0.84[EUR][1000 genomes]
rs7308648	0.83[EUR][1000 genomes]
rs7976497	0.82[EUR][1000 genomes]
rs998727	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv3498619	chr12:121124863-121129114	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	esv3498630	chr12:121124863-121129114	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121126000-121129000	Enhancers	Spleen	Spleen
2	chr12:121126200-121130400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:121126800-121129600	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr12:121126800-121131000	Enhancers	Placenta	Placenta
5	chr12:121127000-121129000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr12:121127000-121131400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:121127200-121128800	Enhancers	Brain Angular Gyrus	brain
8	chr12:121127200-121129000	Enhancers	Thymus	Thymus
9	chr12:121127200-121131000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr12:121127400-121128800	Enhancers	Lung	lung
11	chr12:121127400-121128800	Enhancers	Ovary	ovary
12	chr12:121127400-121129200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:121127400-121129600	Enhancers	Gastric	stomach
14	chr12:121127400-121130000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:121127400-121130200	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:121127400-121130800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:121127400-121131000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:121127400-121131800	Weak transcription	Fetal Brain Female	brain
19	chr12:121127600-121128800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:121127600-121129000	Enhancers	Pancreas	Pancrea
21	chr12:121127600-121129000	Weak transcription	Small Intestine	intestine
22	chr12:121127600-121129000	Genic enhancers	K562	blood
23	chr12:121127600-121129200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:121127600-121129200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr12:121127600-121129200	Enhancers	Primary hematopoietic stem cells	blood
26	chr12:121127600-121129200	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr12:121127600-121129400	Enhancers	Fetal Heart	heart
28	chr12:121127600-121129600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr12:121127600-121130000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:121127600-121130000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr12:121127600-121130000	Enhancers	Liver	Liver
32	chr12:121127600-121130000	Weak transcription	NHDF-Ad	bronchial
33	chr12:121127600-121130000	Weak transcription	NHLF	lung
34	chr12:121127600-121130400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:121127600-121130400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:121127600-121130400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:121127600-121130400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr12:121127600-121130600	Enhancers	Fetal Lung	lung
39	chr12:121127600-121130600	Enhancers	Psoas Muscle	Psoas
40	chr12:121127600-121130800	Enhancers	Left Ventricle	heart
41	chr12:121127600-121131000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:121127600-121131000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:121127600-121131000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:121127600-121131000	Weak transcription	Aorta	Aorta
45	chr12:121127600-121131000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr12:121127600-121131000	Enhancers	HepG2	liver
47	chr12:121127600-121131600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr12:121127600-121131600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr12:121127600-121131600	Enhancers	Adipose Nuclei	Adipose
50	chr12:121127600-121132000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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