Variant report

Variant	rs7730585
Chromosome Location	chr5:179733440-179733441
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	chr5:179721389..179723686-chr5:179731790..179733996,2	K562	blood:
2	chr5:179717360..179719935-chr5:179731872..179734158,2	K562	blood:

Variant related genes	Relation type
ENSG00000050748	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1035411	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1035412	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10903252	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11738924	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11739624	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11748619	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1363517	0.86[AMR][1000 genomes]
rs2080955	0.84[EUR][1000 genomes]
rs6874653	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6879260	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs729568	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7706951	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs888922	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
6	nsv883290	chr5:179712060-179818868	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv830563	chr5:179717693-179898609	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179720600-179739200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr5:179720600-179742800	Weak transcription	Right Ventricle	heart
3	chr5:179720600-179743200	Weak transcription	Fetal Lung	lung
4	chr5:179720600-179756800	Weak transcription	NHDF-Ad	bronchial
5	chr5:179720600-179758400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:179720800-179743600	Weak transcription	Right Atrium	heart
7	chr5:179720800-179747000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:179721000-179733600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:179721000-179740800	Weak transcription	Esophagus	oesophagus
10	chr5:179721000-179741000	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:179721000-179741200	Weak transcription	Fetal Brain Male	brain
12	chr5:179721000-179743000	Weak transcription	Spleen	Spleen
13	chr5:179721800-179740800	Weak transcription	Gastric	stomach
14	chr5:179723200-179740800	Weak transcription	Pancreas	Pancrea
15	chr5:179723400-179740600	Weak transcription	Fetal Intestine Small	intestine
16	chr5:179725200-179740800	Weak transcription	Hela-S3	cervix
17	chr5:179726800-179734800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:179726800-179735000	Strong transcription	Osteobl	bone
19	chr5:179726800-179750600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:179727000-179735000	Strong transcription	Fetal Stomach	stomach
21	chr5:179727000-179755800	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:179727200-179734000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:179727200-179734800	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr5:179727200-179734800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:179727200-179757400	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr5:179727200-179757400	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:179727400-179734400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:179727400-179734600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:179727400-179734600	Strong transcription	Ovary	ovary
30	chr5:179727400-179739800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:179727400-179740000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:179727400-179757600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:179727600-179735000	Strong transcription	NH-A	brain
34	chr5:179727600-179757600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr5:179727800-179733600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:179727800-179734400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
37	chr5:179727800-179734800	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr5:179728000-179734000	Strong transcription	Brain Anterior Caudate	brain
39	chr5:179728000-179734600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr5:179728000-179734800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr5:179728600-179761400	Weak transcription	Aorta	Aorta
42	chr5:179728800-179750800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:179729600-179743200	Weak transcription	HSMM	muscle
44	chr5:179730200-179734000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:179730200-179734800	Strong transcription	Brain Angular Gyrus	brain
46	chr5:179730600-179740800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr5:179730800-179750800	Weak transcription	HSMMtube	muscle
48	chr5:179731000-179742800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:179731200-179740600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr5:179731400-179734600	Strong transcription	Lung	lung

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