Variant report

Variant	rs143127293
Chromosome Location	chr1:95081425-95081426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95080479..95082832-chr1:95086788..95088378,2	K562	blood:
2	chr1:95079718..95082412-chr1:95085713..95087293,2	MCF-7	breast:

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

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	nsv870696	chr1:95005220-95081587	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv871279	chr1:95028981-95083836	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1804937	chr1:95051930-95081587	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv947122	chr1:95081067-95089572	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95065600-95087200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:95075000-95082400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:95075000-95082400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:95075200-95088400	Weak transcription	Fetal Lung	lung
5	chr1:95075400-95081600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:95075400-95082000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:95075400-95082000	Weak transcription	NH-A	brain
8	chr1:95075400-95082800	Weak transcription	Placenta	Placenta
9	chr1:95075600-95086000	Weak transcription	Fetal Stomach	stomach
10	chr1:95077000-95082400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:95077800-95082000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:95078000-95081600	Weak transcription	A549	lung
13	chr1:95078200-95081800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:95078400-95081600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:95078400-95082000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:95078400-95082000	Weak transcription	Fetal Heart	heart
17	chr1:95078400-95082000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:95078400-95082000	Weak transcription	NHEK	skin
19	chr1:95078400-95083000	Weak transcription	HepG2	liver
20	chr1:95078600-95082000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:95078600-95082000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:95078600-95082000	Weak transcription	HMEC	breast
23	chr1:95078600-95082200	Weak transcription	Hela-S3	cervix
24	chr1:95078600-95082400	Weak transcription	NHLF	lung
25	chr1:95078600-95082800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:95078600-95083000	Weak transcription	Colonic Mucosa	Colon
27	chr1:95078600-95085200	Weak transcription	Pancreas	Pancrea
28	chr1:95078600-95086000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:95080200-95082000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:95080800-95082000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:95080800-95082000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr1:95080800-95082400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:95080800-95082800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:95080800-95085200	Weak transcription	Gastric	stomach
35	chr1:95080800-95085200	Weak transcription	Lung	lung
36	chr1:95080800-95086800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:95081000-95081800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:95081000-95082000	Weak transcription	Fetal Intestine Large	intestine
39	chr1:95081000-95082200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:95081000-95082800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:95081000-95085400	Weak transcription	Stomach Mucosa	stomach
42	chr1:95081200-95082400	Weak transcription	Small Intestine	intestine
43	chr1:95081400-95081800	Weak transcription	Fetal Intestine Small	intestine
44	chr1:95081400-95081800	Weak transcription	Rectal Mucosa Donor 31	rectum

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