Variant report

Variant	rs59997667
Chromosome Location	chr4:187615212-187615213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:187613163..187617339-chr4:187617909..187621339,4	K562	blood:
2	chr4:187607227..187608946-chr4:187613643..187615297,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2015953	1.00[EUR][1000 genomes]
rs55663302	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56309540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57875275	1.00[EUR][1000 genomes]
rs60068261	1.00[EUR][1000 genomes]
rs60796512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73873675	1.00[AMR][1000 genomes]
rs73873681	1.00[EUR][1000 genomes]
rs73873696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73873697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73873698	1.00[EUR][1000 genomes]
rs73873699	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73873700	1.00[EUR][1000 genomes]
rs73873701	1.00[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	esv3498359	chr4:187613358-187615956	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187600200-187617000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:187604600-187618000	Weak transcription	Fetal Stomach	stomach
3	chr4:187604600-187626800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:187607400-187618200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr4:187608000-187619400	Weak transcription	Small Intestine	intestine
6	chr4:187608000-187632400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:187608200-187622200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr4:187610200-187621200	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:187610800-187620600	Weak transcription	Fetal Kidney	kidney
10	chr4:187611000-187618200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr4:187611400-187617200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:187611400-187617400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:187611600-187620600	Weak transcription	Fetal Lung	lung
14	chr4:187611800-187616600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:187612000-187620800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:187612400-187616200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:187612800-187616400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:187613000-187617400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:187613800-187615400	Enhancers	Pancreas	Pancrea
20	chr4:187614000-187615400	Enhancers	Right Ventricle	heart
21	chr4:187614000-187615400	Enhancers	Stomach Mucosa	stomach
22	chr4:187614000-187615600	Enhancers	Colon Smooth Muscle	Colon
23	chr4:187614000-187615600	Enhancers	NHLF	lung
24	chr4:187614000-187615800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:187614000-187620000	Enhancers	Left Ventricle	heart
26	chr4:187614400-187615400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr4:187614400-187615400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr4:187614400-187615400	Enhancers	NH-A	brain
29	chr4:187614400-187615600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:187614400-187615600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:187614400-187615600	Enhancers	NHDF-Ad	bronchial
32	chr4:187614400-187616600	Enhancers	HepG2	liver
33	chr4:187614400-187617800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:187614400-187618600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:187614600-187615400	Enhancers	Osteobl	bone
36	chr4:187614600-187615600	Enhancers	HSMM	muscle
37	chr4:187614600-187615600	Enhancers	NHEK	skin
38	chr4:187614600-187616400	Weak transcription	Fetal Muscle Leg	muscle
39	chr4:187614600-187618200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:187614600-187618400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:187614600-187618600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr4:187614600-187618600	Enhancers	Fetal Heart	heart
43	chr4:187614800-187615400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:187614800-187615400	Enhancers	K562	blood
45	chr4:187614800-187615800	Weak transcription	Aorta	Aorta
46	chr4:187614800-187615800	Genic enhancers	HMEC	breast
47	chr4:187614800-187617000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr4:187614800-187617000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:187614800-187617000	Weak transcription	Fetal Intestine Small	intestine
50	chr4:187614800-187617800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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