Variant report

Variant	rs2017933
Chromosome Location	chr4:187616015-187616016
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	chr4:187613163..187617339-chr4:187617909..187621339,4	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17077740	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs327067	0.94[ASN][1000 genomes]
rs3733409	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3733415	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59035714	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6818461	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73015642	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73015656	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73015660	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73015670	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

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	chr4:187614000-187620000	Enhancers	Left Ventricle	heart
20	chr4:187614400-187616600	Enhancers	HepG2	liver
21	chr4:187614400-187617800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:187614400-187618600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:187614600-187616400	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:187614600-187618200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:187614600-187618400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr4:187614600-187618600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr4:187614600-187618600	Enhancers	Fetal Heart	heart
28	chr4:187614800-187617000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr4:187614800-187617000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:187614800-187617000	Weak transcription	Fetal Intestine Small	intestine
31	chr4:187614800-187617800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:187614800-187618000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr4:187614800-187619200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:187614800-187619200	Weak transcription	Right Atrium	heart
35	chr4:187614800-187620600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:187614800-187621200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr4:187614800-187621200	Weak transcription	Colonic Mucosa	Colon
38	chr4:187614800-187621200	Weak transcription	Ovary	ovary
39	chr4:187614800-187621200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr4:187614800-187629400	Weak transcription	Esophagus	oesophagus
41	chr4:187615000-187616600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr4:187615000-187618200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:187615000-187619800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr4:187615000-187620400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr4:187615000-187621200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:187615000-187621400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr4:187615000-187622000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr4:187615000-187623400	Weak transcription	Hela-S3	cervix
49	chr4:187615200-187616200	Weak transcription	HSMMtube	muscle
50	chr4:187615200-187616400	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links