Variant report

Variant	rs17382393
Chromosome Location	chr4:7758110-7758111
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7735719..7739049-chr4:7756418..7759523,3	MCF-7	breast:
2	chr4:7756665..7758201-chr4:7770408..7772068,2	K562	blood:

Variant related genes	Relation type
ENSG00000184985	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11721583	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11721609	0.86[EUR][1000 genomes]
rs11724632	0.86[EUR][1000 genomes]
rs11728778	0.89[EUR][1000 genomes]
rs11729332	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11729602	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11730169	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11731942	0.85[EUR][1000 genomes]
rs11734524	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11734860	0.86[EUR][1000 genomes]
rs11736215	0.86[ASN][1000 genomes]
rs11737447	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13113113	0.89[EUR][1000 genomes]
rs13117918	0.86[EUR][1000 genomes]
rs13125295	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13132939	0.81[EUR][1000 genomes]
rs17382379	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17466895	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34250310	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34276892	0.92[EUR][1000 genomes]
rs34291966	0.82[EUR][1000 genomes]
rs34352176	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34803855	0.81[EUR][1000 genomes]
rs34949259	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35041036	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35161247	0.85[EUR][1000 genomes]
rs35281689	0.82[EUR][1000 genomes]
rs35509185	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35515779	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35592594	0.86[EUR][1000 genomes]
rs35617438	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35668309	0.83[EUR][1000 genomes]
rs35870249	0.86[EUR][1000 genomes]
rs35889107	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3934645	0.86[EUR][1000 genomes]
rs41264705	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4443284	0.86[EUR][1000 genomes]
rs4594724	0.85[EUR][1000 genomes]
rs55698135	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56270003	0.89[EUR][1000 genomes]
rs56352084	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58457272	0.89[EUR][1000 genomes]
rs61036795	0.86[EUR][1000 genomes]
rs62289276	0.89[EUR][1000 genomes]
rs62289280	0.86[EUR][1000 genomes]
rs62291980	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62291982	0.87[AMR][1000 genomes]
rs62291983	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62291984	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs885260	0.85[EUR][1000 genomes]
rs885261	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1007319	chr4:7705550-7832097	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv537018	chr4:7705550-7832097	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS 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	8 gene(s)	inside rSNPs	diseases
5	nsv878575	chr4:7715181-7767755	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv878577	chr4:7757650-7771201	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7740200-7765000	Weak transcription	Aorta	Aorta
2	chr4:7740600-7762400	Weak transcription	Pancreas	Pancrea
3	chr4:7746000-7758800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr4:7746200-7758600	Weak transcription	Colon Smooth Muscle	Colon
5	chr4:7746200-7772000	Weak transcription	Brain Anterior Caudate	brain
6	chr4:7747200-7761800	Weak transcription	Colonic Mucosa	Colon
7	chr4:7749400-7760000	Weak transcription	HSMMtube	muscle
8	chr4:7749400-7765600	Weak transcription	Fetal Brain Male	brain
9	chr4:7749400-7767000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:7749600-7759000	Weak transcription	Spleen	Spleen
11	chr4:7751800-7761000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr4:7752000-7758200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:7752800-7758600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:7752800-7767400	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:7753000-7758400	Weak transcription	A549	lung
16	chr4:7753000-7760400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:7753000-7761200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:7753200-7760200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:7753200-7761000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:7753600-7758600	Weak transcription	Fetal Intestine Large	intestine
21	chr4:7753600-7758800	Strong transcription	Fetal Stomach	stomach
22	chr4:7753800-7758600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:7754000-7762000	Weak transcription	NHLF	lung
24	chr4:7754200-7765400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr4:7755000-7758800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:7755400-7763200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:7755400-7768400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:7755800-7758800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr4:7756000-7758200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr4:7756000-7761400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:7756000-7766000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:7756200-7762200	Weak transcription	NHEK	skin
33	chr4:7756400-7758600	Weak transcription	HSMM	muscle
34	chr4:7756400-7761400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr4:7756400-7762200	Weak transcription	HMEC	breast
36	chr4:7756400-7767800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr4:7756600-7764400	Weak transcription	Esophagus	oesophagus
38	chr4:7756600-7768000	Weak transcription	Brain Angular Gyrus	brain
39	chr4:7756800-7758600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:7757000-7772000	Strong transcription	Brain Germinal Matrix	brain
41	chr4:7757200-7758600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:7757200-7759400	Strong transcription	Fetal Brain Female	brain
43	chr4:7757200-7760200	Weak transcription	Fetal Thymus	thymus
44	chr4:7757400-7758600	Strong transcription	Fetal Muscle Leg	muscle
45	chr4:7757400-7758600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr4:7757600-7760000	Genic enhancers	Fetal Muscle Trunk	muscle
47	chr4:7757600-7764400	Strong transcription	NH-A	brain
48	chr4:7757600-7765400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:7757600-7765400	Strong transcription	Osteobl	bone
50	chr4:7757600-7770800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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