Variant report

Variant	rs1772895
Chromosome Location	chr1:95068347-95068348
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	chr1:95067748..95070486-chr1:95070993..95073979,4	K562	blood:
2	chr1:95068045..95070486-chr1:95071108..95072675,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1098724	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1098725	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1098726	0.97[ASN][1000 genomes]
rs11165173	0.90[JPT][hapmap]
rs12408608	0.99[ASN][1000 genomes]
rs2798940	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34248730	0.94[ASN][1000 genomes]
rs7542900	0.99[ASN][1000 genomes]
rs841684	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs841685	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs841687	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs841688	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs841689	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs841690	0.92[ASN][1000 genomes]
rs841705	0.94[ASN][1000 genomes]
rs841708	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs866365	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1772895	GFI1	cis	parietal	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95056800-95069000	Weak transcription	Right Atrium	heart
2	chr1:95057400-95069000	Weak transcription	Aorta	Aorta
3	chr1:95059400-95074200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:95061400-95076800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:95061600-95068800	Weak transcription	NHLF	lung
6	chr1:95061600-95071600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:95062000-95072200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:95062400-95070800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:95064000-95069600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:95064400-95069200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:95065000-95069000	Enhancers	HMEC	breast
12	chr1:95065200-95081000	Enhancers	Stomach Mucosa	stomach
13	chr1:95065400-95081400	Enhancers	Fetal Intestine Small	intestine
14	chr1:95065600-95087200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:95066000-95070000	Enhancers	Fetal Intestine Large	intestine
16	chr1:95066400-95068600	Weak transcription	HepG2	liver
17	chr1:95066400-95069600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:95066400-95070800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:95066400-95071400	Weak transcription	Pancreas	Pancrea
20	chr1:95066600-95071600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:95067400-95069200	Enhancers	Primary hematopoietic stem cells	blood
22	chr1:95067400-95069200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr1:95067600-95068600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr1:95067600-95068600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:95067600-95068600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:95067600-95069200	Flanking Active TSS	Dnd41	blood
27	chr1:95067600-95069600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:95067600-95072000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:95067800-95068400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:95067800-95068400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr1:95067800-95068400	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr1:95067800-95068400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr1:95068000-95069200	Enhancers	NH-A	brain
34	chr1:95068000-95071600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:95068000-95078200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:95068200-95068800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:95068200-95069200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:95068200-95069200	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr1:95068200-95069200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:95068200-95069400	Weak transcription	Small Intestine	intestine
41	chr1:95068200-95069800	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr1:95068200-95070800	Weak transcription	Colonic Mucosa	Colon
43	chr1:95068200-95071400	Weak transcription	NHDF-Ad	bronchial
44	chr1:95068200-95073400	Weak transcription	Gastric	stomach
45	chr1:95068200-95074000	Enhancers	Duodenum Mucosa	Duodenum

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