Variant report

Variant	rs4730498
Chromosome Location	chr7:111396229-111396230
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	chr7:111395713..111398642-chr7:111400360..111402475,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10246451	0.90[EUR][1000 genomes]
rs10275090	0.93[AMR][1000 genomes]
rs11380468	0.87[ASN][1000 genomes]
rs11767617	0.90[EUR][1000 genomes]
rs11971917	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17545234	0.84[EUR][1000 genomes]
rs2078984	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2097712	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2301678	0.90[EUR][1000 genomes]
rs3757648	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3779458	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4416770	0.90[EUR][1000 genomes]
rs6950977	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73432088	0.87[ASN][1000 genomes]
rs757031	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs867915	0.84[EUR][1000 genomes]
rs9641471	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608196	chr7:111073710-111794368	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv932103	chr7:111092431-111412049	Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv869375	chr7:111105151-111470811	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv608215	chr7:111183610-111533520	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1028740	chr7:111227747-111679401	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1015267	chr7:111303294-111714771	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv539087	chr7:111303294-111714771	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv539088	chr7:111333899-111722341	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer 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
12	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1034375	chr7:111337109-111459099	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111363000-111418000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:111367400-111401600	Weak transcription	Colonic Mucosa	Colon
3	chr7:111373600-111414000	Weak transcription	Right Ventricle	heart
4	chr7:111376000-111399600	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:111376600-111397000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:111376600-111398200	Weak transcription	A549	lung
7	chr7:111377000-111396800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:111377000-111396800	Weak transcription	HMEC	breast
9	chr7:111379600-111398000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr7:111379600-111433600	Weak transcription	Esophagus	oesophagus
11	chr7:111379800-111398600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:111380000-111396600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr7:111383800-111396600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:111383800-111396600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:111383800-111396600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:111383800-111396600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:111383800-111396800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:111383800-111396800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:111383800-111400200	Weak transcription	Aorta	Aorta
20	chr7:111384000-111396800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:111384400-111409000	Weak transcription	Fetal Stomach	stomach
22	chr7:111384600-111396400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:111384600-111396400	Weak transcription	Lung	lung
24	chr7:111384600-111396800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:111384600-111396800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr7:111385000-111396400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:111385200-111396400	Weak transcription	NHLF	lung
28	chr7:111385200-111396600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:111385200-111396600	Weak transcription	Osteobl	bone
30	chr7:111385200-111397000	Weak transcription	NH-A	brain
31	chr7:111385200-111399400	Weak transcription	NHEK	skin
32	chr7:111385400-111396800	Weak transcription	NHDF-Ad	bronchial
33	chr7:111385400-111398000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr7:111385600-111396600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:111385600-111403600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr7:111387400-111397000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:111387400-111398000	Weak transcription	Ovary	ovary
38	chr7:111388000-111396400	Weak transcription	Adipose Nuclei	Adipose
39	chr7:111389200-111396600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:111389200-111416800	Weak transcription	Placenta	Placenta
41	chr7:111389400-111396400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:111389400-111396800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:111390400-111396400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:111390400-111435600	Weak transcription	Psoas Muscle	Psoas
45	chr7:111390600-111431800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr7:111390800-111401600	Weak transcription	Fetal Intestine Large	intestine
47	chr7:111391200-111398200	Weak transcription	HepG2	liver
48	chr7:111391400-111401200	Weak transcription	Hela-S3	cervix
49	chr7:111393200-111396800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:111393200-111401800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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