Variant report

Variant	rs73015638
Chromosome Location	chr4:187613010-187613011
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	chr4:187611565..187613654-chr4:187643420..187645681,2	K562	blood:
2	chr4:187611565..187614162-chr4:187644181..187645742,2	K562	blood:

Variant related genes	Relation type
ENSG00000083857	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1552690	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55706395	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61574653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6851709	1.00[ASN][1000 genomes]
rs73015636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs907986	1.00[ASN][1000 genomes]
rs9790767	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025088	chr4:187407683-187674585	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1024705	chr4:187534005-187849091	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1026970	chr4:187537418-187913351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv596440	chr4:187538133-187848075	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS 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
10	nsv881509	chr4:187574398-187614434	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187583000-187614400	Weak transcription	Colonic Mucosa	Colon
2	chr4:187591200-187614400	Weak transcription	Ovary	ovary
3	chr4:187598200-187614400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:187600200-187617000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:187604600-187618000	Weak transcription	Fetal Stomach	stomach
6	chr4:187604600-187626800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:187605800-187614400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:187606200-187614000	Weak transcription	Right Ventricle	heart
9	chr4:187606400-187614400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:187606400-187614400	Weak transcription	Brain Anterior Caudate	brain
11	chr4:187607000-187614400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr4:187607000-187614400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr4:187607400-187614000	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:187607400-187614200	Weak transcription	Hela-S3	cervix
15	chr4:187607400-187618200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:187608000-187614400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:187608000-187619400	Weak transcription	Small Intestine	intestine
18	chr4:187608000-187632400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr4:187608200-187622200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:187608400-187614000	Weak transcription	Adipose Nuclei	Adipose
21	chr4:187608400-187614400	Weak transcription	HSMMtube	muscle
22	chr4:187608600-187614000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr4:187608600-187614400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:187609200-187614600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr4:187609800-187614400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:187609800-187614400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:187609800-187614400	Weak transcription	Aorta	Aorta
28	chr4:187609800-187614400	Weak transcription	Lung	lung
29	chr4:187609800-187614400	Weak transcription	Right Atrium	heart
30	chr4:187610000-187613800	Weak transcription	Pancreas	Pancrea
31	chr4:187610000-187614000	Weak transcription	Left Ventricle	heart
32	chr4:187610000-187614400	Weak transcription	Gastric	stomach
33	chr4:187610200-187614000	Weak transcription	Stomach Mucosa	stomach
34	chr4:187610200-187621200	Weak transcription	Brain Hippocampus Middle	brain
35	chr4:187610400-187614000	Weak transcription	HSMM	muscle
36	chr4:187610600-187614000	Strong transcription	HMEC	breast
37	chr4:187610800-187615000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:187610800-187620600	Weak transcription	Fetal Kidney	kidney
39	chr4:187611000-187614000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:187611000-187614000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:187611000-187614000	Weak transcription	NHLF	lung
42	chr4:187611000-187614400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:187611000-187614400	Weak transcription	Esophagus	oesophagus
44	chr4:187611000-187614400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr4:187611000-187614400	Weak transcription	NH-A	brain
46	chr4:187611000-187614400	Weak transcription	NHDF-Ad	bronchial
47	chr4:187611000-187614800	Strong transcription	Fetal Intestine Small	intestine
48	chr4:187611000-187618200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr4:187611200-187613200	Weak transcription	Fetal Heart	heart
50	chr4:187611200-187614200	Strong transcription	NHEK	skin

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