Variant report

Variant	rs60498548
Chromosome Location	chr4:187492417-187492418
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1280094	1.00[EUR][1000 genomes]
rs1280101	1.00[EUR][1000 genomes]
rs1280104	1.00[EUR][1000 genomes]
rs1296982	1.00[EUR][1000 genomes]
rs28755815	1.00[EUR][1000 genomes]
rs57648245	1.00[EUR][1000 genomes]
rs57786846	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023052	chr4:187244679-187534428	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1016739	chr4:187249894-187534428	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv461866	chr4:187262489-187529904	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv596417	chr4:187262489-187529904	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1022113	chr4:187268460-187534065	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1024953	chr4:187332658-187525542	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv537435	chr4:187332658-187525542	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1016261	chr4:187332658-187564927	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv537436	chr4:187332658-187564927	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1025088	chr4:187407683-187674585	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv525719	chr4:187411297-187521037	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	nsv1015619	chr4:187442453-187595058	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv1023800	chr4:187444255-187593799	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	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
18	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

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187488000-187505000	Weak transcription	A549	lung
2	chr4:187489000-187501800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:187491200-187492800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:187491400-187493000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:187491600-187501800	Weak transcription	HSMM	muscle
6	chr4:187491600-187516400	Weak transcription	Colonic Mucosa	Colon
7	chr4:187491800-187493600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:187491800-187495400	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:187491800-187501200	Weak transcription	NH-A	brain
10	chr4:187491800-187501400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:187491800-187502800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:187491800-187503800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:187491800-187504600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:187491800-187505000	Weak transcription	NHLF	lung
15	chr4:187492000-187492600	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr4:187492000-187492800	Enhancers	Stomach Mucosa	stomach
17	chr4:187492000-187501800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr4:187492000-187503400	Weak transcription	Fetal Lung	lung
19	chr4:187492000-187503600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr4:187492000-187504200	Weak transcription	Osteobl	bone
21	chr4:187492000-187504400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:187492000-187504800	Weak transcription	NHEK	skin
23	chr4:187492200-187493000	Enhancers	Fetal Kidney	kidney
24	chr4:187492200-187496800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:187492200-187501200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:187492200-187502600	Weak transcription	Fetal Intestine Small	intestine
27	chr4:187492200-187502600	Weak transcription	Fetal Stomach	stomach
28	chr4:187492200-187503800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:187492200-187504000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr4:187492200-187505000	Weak transcription	HepG2	liver
31	chr4:187492400-187492600	Weak transcription	Pancreas	Pancrea
32	chr4:187492400-187493000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:187492400-187496400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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