Variant report

Variant	rs7547349
Chromosome Location	chr1:175097094-175097095
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175091685..175094091-chr1:175094460..175097259,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs41266092	0.91[EUR][1000 genomes]
rs60694086	0.91[EUR][1000 genomes]
rs6664308	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6664418	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6703136	0.91[EUR][1000 genomes]
rs74126905	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126914	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126915	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126919	0.91[EUR][1000 genomes]
rs74126922	0.91[EUR][1000 genomes]
rs74126923	0.91[EUR][1000 genomes]

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	nsv825487	chr1:175031609-175113572	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv508648	chr1:175056387-175121913	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175086400-175099600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:175091200-175098600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:175094000-175100000	Enhancers	Liver	Liver
4	chr1:175094400-175098400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:175094400-175098800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:175095600-175098200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:175095600-175098200	Enhancers	Lung	lung
8	chr1:175095600-175099600	Enhancers	Fetal Lung	lung
9	chr1:175095600-175099800	Enhancers	Placenta	Placenta
10	chr1:175095600-175099800	Enhancers	Right Atrium	heart
11	chr1:175095600-175100400	Enhancers	Fetal Stomach	stomach
12	chr1:175095800-175102600	Enhancers	Stomach Smooth Muscle	stomach
13	chr1:175096200-175097200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:175096200-175097400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:175096200-175097400	Enhancers	Stomach Mucosa	stomach
16	chr1:175096400-175102600	Enhancers	Colon Smooth Muscle	Colon
17	chr1:175096600-175098000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:175096600-175099400	Enhancers	Spleen	Spleen
19	chr1:175096600-175099800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr1:175096800-175097400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:175096800-175098000	Enhancers	Right Ventricle	heart
22	chr1:175096800-175098200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr1:175096800-175098200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr1:175096800-175098800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr1:175096800-175100000	Enhancers	Fetal Muscle Leg	muscle
26	chr1:175097000-175097200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr1:175097000-175097200	Enhancers	Esophagus	oesophagus
28	chr1:175097000-175097200	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr1:175097000-175097400	Enhancers	Small Intestine	intestine
30	chr1:175097000-175097800	Enhancers	Duodenum Mucosa	Duodenum
31	chr1:175097000-175098000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:175097000-175098000	Enhancers	Fetal Muscle Trunk	muscle
33	chr1:175097000-175098000	Enhancers	Gastric	stomach
34	chr1:175097000-175098200	Enhancers	Left Ventricle	heart
35	chr1:175097000-175098400	Weak transcription	GM12878-XiMat	blood
36	chr1:175097000-175100000	Enhancers	Adipose Nuclei	Adipose

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