Variant report

Variant	rs72496330
Chromosome Location	chr4:186662106-186662107
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr4:186661582-186662169	H1-hESC	embryonic stem cell:	n/a	n/a
2	RELA	chr4:186661397-186662228	GM19193	blood:	n/a	n/a

Variant related genes	Relation type
SORBS2	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs28521093	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55857714	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56110010	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62334818	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62334851	0.80[EUR][1000 genomes]
rs6857307	0.81[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	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS 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	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1023412	chr4:186613289-186707428	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv537421	chr4:186613289-186707428	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers 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	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186654200-186662200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr4:186655200-186701400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:186655800-186667600	Weak transcription	Fetal Intestine Small	intestine
4	chr4:186656200-186662200	Enhancers	Fetal Brain Male	brain
5	chr4:186656200-186676200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:186657200-186662400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:186657400-186663800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:186657600-186662400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:186658200-186663600	Weak transcription	Stomach Mucosa	stomach
10	chr4:186658400-186662200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr4:186659400-186662200	Enhancers	Colon Smooth Muscle	Colon
12	chr4:186659400-186663000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:186659600-186663800	Weak transcription	NH-A	brain
14	chr4:186659600-186664000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:186659600-186664200	Weak transcription	HSMM	muscle
16	chr4:186659600-186667200	Enhancers	Liver	Liver
17	chr4:186660000-186662200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:186660000-186662200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr4:186660200-186662200	Enhancers	Aorta	Aorta
20	chr4:186660200-186662200	Enhancers	Right Ventricle	heart
21	chr4:186660200-186670200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:186660400-186663200	Weak transcription	Osteobl	bone
23	chr4:186660400-186663600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:186660400-186664600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr4:186660400-186678000	Weak transcription	HSMMtube	muscle
26	chr4:186660600-186668400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:186660800-186676000	Weak transcription	HUVEC	blood vessel
28	chr4:186661000-186663800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:186661200-186662200	Enhancers	Left Ventricle	heart
30	chr4:186661200-186662400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr4:186661200-186664800	Enhancers	Pancreas	Pancrea
32	chr4:186661400-186662200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr4:186661400-186662200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:186661400-186662200	Enhancers	Primary B cells from peripheral blood	blood
35	chr4:186661400-186662200	Enhancers	Gastric	stomach
36	chr4:186661400-186662200	Enhancers	Lung	lung
37	chr4:186661400-186662200	Enhancers	Right Atrium	heart
38	chr4:186661400-186663200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:186661400-186694600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:186661600-186662200	Flanking Active TSS	Fetal Heart	heart
41	chr4:186661600-186663400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr4:186661600-186663800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr4:186661600-186664000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr4:186661600-186668600	Weak transcription	Fetal Brain Female	brain
45	chr4:186661600-186672400	Weak transcription	Fetal Kidney	kidney
46	chr4:186661800-186662200	Genic enhancers	Fetal Stomach	stomach
47	chr4:186661800-186662200	Flanking Active TSS	GM12878-XiMat	blood
48	chr4:186661800-186663000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr4:186661800-186663200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr4:186661800-186663400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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