Variant report

Variant	rs73073931
Chromosome Location	chr4:7886060-7886061
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10213406	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16841368	1.00[EUR][1000 genomes]
rs28658400	0.93[ASN][1000 genomes]
rs28668865	1.00[EUR][1000 genomes]
rs56663055	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56943746	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58893476	1.00[ASN][1000 genomes]
rs61601120	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73073913	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73073923	1.00[ASN][1000 genomes]
rs73073928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73073932	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73073935	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73073948	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73073953	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73073960	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73086500	1.00[ASN][1000 genomes]
rs73086501	1.00[ASN][1000 genomes]
rs73088504	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73088575	0.93[ASN][1000 genomes]
rs73088582	1.00[ASN][1000 genomes]
rs73088596	1.00[ASN][1000 genomes]
rs73090504	1.00[ASN][1000 genomes]
rs73090510	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090524	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7857800-7896400	Weak transcription	Spleen	Spleen
2	chr4:7873600-7894000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:7874600-7887600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:7874600-7892800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:7874600-7894000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:7876000-7891800	Weak transcription	Hela-S3	cervix
7	chr4:7878200-7898400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:7878400-7886600	Weak transcription	Small Intestine	intestine
9	chr4:7879000-7888200	Weak transcription	Fetal Intestine Large	intestine
10	chr4:7879400-7888000	Weak transcription	Fetal Brain Female	brain
11	chr4:7879400-7891800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:7879800-7886800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:7880400-7888000	Weak transcription	Brain Anterior Caudate	brain
14	chr4:7881000-7887200	Weak transcription	Brain Germinal Matrix	brain
15	chr4:7881200-7887000	Weak transcription	Aorta	Aorta
16	chr4:7881200-7887200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:7881200-7888200	Weak transcription	Psoas Muscle	Psoas
18	chr4:7881200-7888400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr4:7881400-7886600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:7881400-7887000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:7881800-7889800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:7881800-7896600	Weak transcription	Lung	lung
23	chr4:7882600-7886400	Weak transcription	HepG2	liver
24	chr4:7882600-7887000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:7882600-7888200	Weak transcription	Stomach Mucosa	stomach
26	chr4:7882600-7888400	Weak transcription	Fetal Brain Male	brain
27	chr4:7882800-7887200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:7882800-7888000	Weak transcription	NHDF-Ad	bronchial
29	chr4:7883000-7887000	Weak transcription	HSMMtube	muscle
30	chr4:7883000-7887800	Weak transcription	Fetal Lung	lung
31	chr4:7883000-7891800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:7883200-7886400	Weak transcription	HSMM	muscle
33	chr4:7883200-7886600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr4:7883200-7886600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr4:7883200-7886800	Weak transcription	Colon Smooth Muscle	Colon
36	chr4:7883200-7886800	Weak transcription	Fetal Heart	heart
37	chr4:7883200-7886800	Weak transcription	Fetal Stomach	stomach
38	chr4:7883200-7887000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr4:7883200-7887000	Weak transcription	Right Atrium	heart
40	chr4:7883200-7887600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr4:7883200-7887600	Weak transcription	NHLF	lung
42	chr4:7883200-7888000	Weak transcription	HUVEC	blood vessel
43	chr4:7883200-7888800	Weak transcription	Placenta	Placenta
44	chr4:7883200-7889400	Weak transcription	Pancreas	Pancrea
45	chr4:7883200-7891800	Weak transcription	Ovary	ovary
46	chr4:7883200-7893000	Weak transcription	Left Ventricle	heart
47	chr4:7883200-7904400	Weak transcription	Gastric	stomach
48	chr4:7883400-7886600	Weak transcription	Fetal Muscle Leg	muscle
49	chr4:7884200-7888600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr4:7884400-7886600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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