Variant report

Variant	rs9992417
Chromosome Location	chr4:187745843-187745844
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:187740833..187742405-chr4:187744512..187747261,2	K562	blood:
2	chr4:187742199..187747517-chr4:187748005..187751181,4	K562	blood:
3	chr4:187676658..187680719-chr4:187744045..187748911,5	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10009446	1.00[ASN][1000 genomes]
rs10021059	1.00[ASN][1000 genomes]
rs10033282	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11939368	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28374782	1.00[ASN][1000 genomes]
rs28412794	1.00[ASN][1000 genomes]
rs28417286	1.00[ASN][1000 genomes]
rs28615794	1.00[ASN][1000 genomes]
rs28712755	1.00[ASN][1000 genomes]
rs28726133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35408866	1.00[ASN][1000 genomes]
rs56078302	1.00[ASN][1000 genomes]
rs73876336	1.00[ASN][1000 genomes]
rs73876339	1.00[ASN][1000 genomes]

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	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1024705	chr4:187534005-187849091	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1026970	chr4:187537418-187913351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv596440	chr4:187538133-187848075	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1031603	chr4:187636716-188020741	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv880401	chr4:187668795-188047143	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv596441	chr4:187695564-187786316	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187741800-187751000	Weak transcription	Stomach Mucosa	stomach
2	chr4:187742000-187746800	Weak transcription	A549	lung
3	chr4:187742000-187752600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:187742200-187747200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:187742200-187748000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:187742200-187750600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:187742200-187750600	Weak transcription	NHLF	lung
8	chr4:187742400-187747200	Weak transcription	Osteobl	bone
9	chr4:187742400-187750200	Weak transcription	HUVEC	blood vessel
10	chr4:187742600-187746800	Weak transcription	Hela-S3	cervix
11	chr4:187742600-187747200	Weak transcription	Fetal Lung	lung
12	chr4:187742600-187747400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:187742600-187748000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr4:187742600-187748000	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:187742600-187750600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:187742600-187750600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:187743000-187748800	Enhancers	HepG2	liver
18	chr4:187743400-187748000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr4:187744600-187746000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:187744800-187746200	Enhancers	K562	blood
21	chr4:187745200-187746000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr4:187745200-187747800	Enhancers	Duodenum Mucosa	Duodenum
23	chr4:187745200-187747800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr4:187745600-187747200	Weak transcription	Small Intestine	intestine
25	chr4:187745800-187746400	Enhancers	Fetal Intestine Large	intestine
26	chr4:187745800-187747800	Enhancers	Fetal Intestine Small	intestine
27	chr4:187745800-187747800	Weak transcription	Fetal Stomach	stomach

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