Variant report

Variant	rs532169466
Chromosome Location	chr1:161041044-161041045
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161013435..161019346-chr1:161039308..161043996,7	MCF-7	breast:
2	chr1:161040956..161045180-chr1:161134527..161136918,3	MCF-7	breast:
3	chr1:161035244..161038070-chr1:161039157..161043697,5	MCF-7	breast:
4	chr1:161039261..161041594-chr1:161042293..161044565,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143217	Chromatin interaction
ENSG00000268154	Chromatin interaction
ENSG00000143224	Chromatin interaction
ENSG00000158773	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv3221	chr1:161008175-161052979	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv947135	chr1:161041002-161050287	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161030000-161046200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:161038600-161041200	Enhancers	HMEC	breast
3	chr1:161038800-161041800	Weak transcription	HepG2	liver
4	chr1:161038800-161043400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:161039000-161042000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:161039000-161043400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:161039200-161042400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:161039600-161041800	Weak transcription	Pancreas	Pancrea
9	chr1:161039600-161042000	Weak transcription	Fetal Stomach	stomach
10	chr1:161039600-161042000	Weak transcription	Spleen	Spleen
11	chr1:161039600-161049000	Weak transcription	Lung	lung
12	chr1:161039600-161066800	Weak transcription	Right Atrium	heart
13	chr1:161039800-161041200	Strong transcription	Placenta	Placenta
14	chr1:161039800-161041800	Weak transcription	Adipose Nuclei	Adipose
15	chr1:161039800-161042000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:161039800-161042000	Enhancers	Fetal Thymus	thymus
17	chr1:161039800-161042000	Weak transcription	Gastric	stomach
18	chr1:161039800-161049000	Weak transcription	Fetal Intestine Small	intestine
19	chr1:161039800-161052600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:161039800-161053000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:161040000-161041200	Enhancers	Thymus	Thymus
22	chr1:161040000-161041800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:161040000-161042000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:161040000-161042000	Strong transcription	Esophagus	oesophagus
25	chr1:161040000-161042200	Enhancers	Primary B cells from peripheral blood	blood
26	chr1:161040000-161042400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr1:161040000-161044400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr1:161040200-161041800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:161040200-161041800	Weak transcription	K562	blood
30	chr1:161040200-161042000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:161040200-161042000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:161040200-161042000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr1:161040200-161042000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:161040200-161042000	Enhancers	GM12878-XiMat	blood
35	chr1:161040200-161042200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr1:161040200-161042200	Enhancers	Primary B cells from cord blood	blood
37	chr1:161040200-161042200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr1:161040200-161042200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr1:161040200-161042400	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr1:161040200-161042400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr1:161040200-161042400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:161040200-161042400	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr1:161040200-161042600	Enhancers	Primary T cells fromperipheralblood	blood
44	chr1:161040200-161042600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:161040200-161045000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr1:161040200-161052600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr1:161040200-161052800	Weak transcription	Colonic Mucosa	Colon
48	chr1:161040400-161041400	Enhancers	NHEK	skin
49	chr1:161040400-161042200	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr1:161040600-161042200	Enhancers	Primary T cells from cord blood	blood

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