Variant report

Variant	rs11719143
Chromosome Location	chr3:99984088-99984089
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr3:99984041-99984177	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr3:99983953-99984178	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr3:99983900-99984212	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:99981876..99985966-chr3:99986124..99992664,8	K562	blood:
2	chr3:99982718..99984285-chr3:100000156..100002852,2	K562	blood:
3	chr3:99614799..99616981-chr3:99982145..99984761,2	K562	blood:
4	chr3:99982526..99986006-chr3:99993690..99996529,5	K562	blood:
5	chr3:99614799..99617137-chr3:99982145..99984761,3	K562	blood:
6	chr3:99981806..99984412-chr3:100006870..100008819,2	K562	blood:

No data

Variant related genes	Relation type
TBC1D23	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs388478	1.00[MEX][hapmap]
rs413801	1.00[CHD][hapmap]
rs4575928	1.00[MEX][hapmap]
rs9833995	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1003924	chr3:99933762-100112690	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats 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

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99980600-99988600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:99980600-100037200	Weak transcription	Spleen	Spleen
3	chr3:99980600-100053200	Weak transcription	Gastric	stomach
4	chr3:99980800-99988800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:99981000-99984400	Enhancers	Liver	Liver
6	chr3:99981000-99990400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:99981000-99996400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr3:99981200-99984200	Enhancers	Adipose Nuclei	Adipose
9	chr3:99981200-99985200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr3:99981200-99985400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:99981200-99986000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr3:99981200-99987000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr3:99981200-99988600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr3:99981200-99988800	Weak transcription	Fetal Brain Female	brain
15	chr3:99981200-99993200	Weak transcription	Primary B cells from cord blood	blood
16	chr3:99981200-99995400	Weak transcription	Brain Angular Gyrus	brain
17	chr3:99981200-99997800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr3:99981200-99998400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr3:99981200-99998600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr3:99981200-99998600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr3:99981200-100004800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr3:99981200-100030800	Weak transcription	Fetal Heart	heart
23	chr3:99981400-99986800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:99981400-99988600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr3:99981400-99998400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr3:99981400-100004400	Weak transcription	Lung	lung
27	chr3:99982000-99984200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr3:99982000-99984200	Enhancers	Duodenum Mucosa	Duodenum
29	chr3:99982000-99986800	Weak transcription	Right Atrium	heart
30	chr3:99982200-99984200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr3:99982200-99984200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:99982200-99984200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:99982200-99984200	Enhancers	Hela-S3	cervix
34	chr3:99982200-99984200	Enhancers	HMEC	breast
35	chr3:99982200-99990400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:99982400-99984200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr3:99982400-99984200	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr3:99982400-99984200	Flanking Active TSS	NHEK	skin
39	chr3:99982400-100005400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:99982600-99984200	Active TSS	GM12878-XiMat	blood
41	chr3:99982600-99998800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr3:99982800-99984200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr3:99982800-99985000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr3:99982800-99987200	Weak transcription	Aorta	Aorta
45	chr3:99982800-100001400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr3:99983000-99984200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr3:99983000-99984200	Enhancers	NHDF-Ad	bronchial
48	chr3:99983000-99984600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr3:99983000-99985200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr3:99983000-99986800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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