Variant report

Variant	rs192690114
Chromosome Location	chr3:28393063-28393064
allele	A/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	POLR2A	chr3:28388560-28395839	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr3:28387839-28396035	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:28360111..28361698-chr3:28390791..28393091,2	K562	blood:
2	chr3:28390959..28393888-chr3:28439197..28440878,2	K562	blood:
3	chr3:28391232..28393248-chr3:28418194..28419782,2	K562	blood:
4	chr3:23957644..23960053-chr3:28390990..28393934,2	K562	blood:
5	chr3:28388985..28391534-chr3:28392522..28395411,2	MCF-7	breast:

Variant related genes	Relation type
AZI2	TF binding region
ENSG00000163512	Chromatin interaction
ENSG00000206559	Chromatin interaction
ENSG00000174748	Chromatin interaction
ENSG00000197885	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328565	chr3:27991169-28915035	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv876649	chr3:28126595-28718454	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2500136	chr3:28391396-28393792	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	esv2010454	chr3:28391892-28393499	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv3461675	chr3:28391934-28393405	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv3461670	chr3:28391947-28393385	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3461671	chr3:28391981-28393401	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv3461672	chr3:28392005-28393355	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv9779	chr3:28392059-28393315	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	esv3461673	chr3:28392071-28393320	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	esv3461676	chr3:28392085-28393318	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28391000-28394400	Weak transcription	Spleen	Spleen
2	chr3:28391200-28393600	Weak transcription	Gastric	stomach
3	chr3:28391200-28395200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:28391400-28393200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr3:28391400-28393200	Weak transcription	Fetal Kidney	kidney
6	chr3:28391400-28393200	Weak transcription	Ovary	ovary
7	chr3:28391400-28393600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr3:28391400-28393600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:28391400-28393600	Weak transcription	Aorta	Aorta
10	chr3:28391400-28393600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr3:28391400-28393600	Weak transcription	Pancreas	Pancrea
12	chr3:28391400-28393600	Weak transcription	HSMM	muscle
13	chr3:28391400-28394000	Weak transcription	Brain Substantia Nigra	brain
14	chr3:28391400-28394200	Weak transcription	Left Ventricle	heart
15	chr3:28391400-28394400	Weak transcription	Placenta	Placenta
16	chr3:28391400-28394400	Weak transcription	Fetal Stomach	stomach
17	chr3:28391400-28395200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:28391400-28395200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr3:28391400-28396000	Weak transcription	Colonic Mucosa	Colon
20	chr3:28391600-28393200	Weak transcription	Primary B cells from cord blood	blood
21	chr3:28391600-28393400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr3:28391600-28394600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:28391600-28395400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr3:28391600-28395400	Weak transcription	Brain Hippocampus Middle	brain
25	chr3:28391600-28397800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr3:28391600-28398600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr3:28391800-28393200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr3:28391800-28393400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr3:28391800-28394200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr3:28391800-28395000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr3:28391800-28395200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr3:28391800-28395200	Weak transcription	Osteobl	bone
33	chr3:28391800-28395400	Weak transcription	Brain Angular Gyrus	brain
34	chr3:28391800-28395600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:28391800-28397000	Weak transcription	HSMMtube	muscle
36	chr3:28392000-28393200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:28392000-28393200	Weak transcription	Liver	Liver
38	chr3:28392000-28393400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr3:28392000-28393600	Weak transcription	Colon Smooth Muscle	Colon
40	chr3:28392000-28393600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr3:28392000-28394200	Weak transcription	NHLF	lung
42	chr3:28392000-28395000	Weak transcription	NHDF-Ad	bronchial
43	chr3:28392000-28397200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr3:28392200-28393200	Weak transcription	Primary T cells from cord blood	blood
45	chr3:28392200-28394800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:28392200-28395400	Weak transcription	Brain Anterior Caudate	brain
47	chr3:28392200-28395800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:28392400-28393200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:28392400-28393200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr3:28392400-28393400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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