Variant report

Variant	rs62348931
Chromosome Location	chr4:187406908-187406909
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs62348930	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv2757972	chr4:187261330-187422342	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2759310	chr4:187261330-187422342	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv1027771	chr4:187361404-187431973	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1015939	chr4:187388958-187454620	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1030319	chr4:187390680-187424564	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv1023427	chr4:187392594-187454677	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187395400-187413600	Weak transcription	K562	blood
2	chr4:187403400-187407800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:187406200-187407200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr4:187406200-187407400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr4:187406200-187407600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr4:187406200-187407800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:187406200-187407800	Enhancers	Fetal Brain Male	brain
8	chr4:187406200-187408000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:187406200-187408000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:187406200-187408000	Active TSS	Brain Cingulate Gyrus	brain
11	chr4:187406200-187408000	Active TSS	Brain Substantia Nigra	brain
12	chr4:187406200-187409400	Active TSS	Brain Anterior Caudate	brain
13	chr4:187406400-187407200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:187406400-187407200	Active TSS	Fetal Brain Female	brain
15	chr4:187406400-187407400	Active TSS	Ovary	ovary
16	chr4:187406400-187407800	Active TSS	Brain Germinal Matrix	brain
17	chr4:187406400-187407800	Active TSS	NHDF-Ad	bronchial
18	chr4:187406600-187407000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
19	chr4:187406600-187407000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:187406600-187407000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:187406600-187407000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:187406600-187407000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:187406600-187407000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:187406600-187407000	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr4:187406600-187407000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr4:187406600-187407000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
27	chr4:187406600-187407000	Active TSS	Right Ventricle	heart
28	chr4:187406600-187407200	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr4:187406600-187407200	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr4:187406600-187407200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:187406600-187407200	Active TSS	A549	lung
32	chr4:187406600-187407400	Enhancers	Fetal Heart	heart
33	chr4:187406600-187407400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
34	chr4:187406600-187407400	Active TSS	Stomach Smooth Muscle	stomach
35	chr4:187406600-187407400	Active TSS	NHLF	lung
36	chr4:187406600-187407600	Active TSS	Colonic Mucosa	Colon
37	chr4:187406600-187407600	Active TSS	Right Atrium	heart
38	chr4:187406600-187407800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr4:187406600-187407800	Active TSS	Aorta	Aorta
40	chr4:187406600-187407800	Active TSS	Brain Angular Gyrus	brain
41	chr4:187406600-187407800	Active TSS	Colon Smooth Muscle	Colon
42	chr4:187406600-187407800	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr4:187406600-187407800	Active TSS	Rectal Smooth Muscle	rectum
44	chr4:187406600-187407800	Active TSS	HSMM	muscle
45	chr4:187406600-187408000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr4:187406800-187407000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:187406800-187407000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:187406800-187407000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:187406800-187407000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr4:187406800-187407000	Flanking Bivalent TSS/Enh	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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