Variant report

Variant	rs930113
Chromosome Location	chr4:74735901-74735902
allele	A/C
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:26)

rs_ID	r²[population]
rs1511814	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1814092	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1835263	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs187093	0.85[AMR][1000 genomes]
rs2018732	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2668075	0.85[AMR][1000 genomes]
rs2668077	0.85[AMR][1000 genomes]
rs3097408	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3097410	0.89[AFR][1000 genomes]
rs352030	0.85[AMR][1000 genomes]
rs353030	0.85[AMR][1000 genomes]
rs353035	0.85[AMR][1000 genomes]
rs353037	0.85[AMR][1000 genomes]
rs375890	0.85[AMR][1000 genomes]
rs471520	0.85[AMR][1000 genomes]
rs480175	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs506627	0.85[AMR][1000 genomes]
rs509958	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs548869	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs554409	0.85[AMR][1000 genomes]
rs565886	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs587895	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs591026	0.87[AFR][1000 genomes]
rs592797	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs649575	0.87[AMR][1000 genomes]
rs72855209	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv432612	chr4:74723372-74774372	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74733600-74738800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr4:74733800-74736400	Active TSS	Rectal Smooth Muscle	rectum
3	chr4:74734000-74736400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:74734200-74737000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:74734400-74736200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:74734400-74736200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
7	chr4:74734400-74736200	Active TSS	Fetal Intestine Large	intestine
8	chr4:74734400-74736200	Active TSS	Right Atrium	heart
9	chr4:74734400-74736200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
10	chr4:74734400-74736200	Active TSS	A549	lung
11	chr4:74734400-74736400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:74734400-74736800	Active TSS	Pancreas	Pancrea
13	chr4:74734600-74736000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr4:74734600-74736000	Active TSS	Primary B cells from cord blood	blood
15	chr4:74734600-74736200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
16	chr4:74734600-74736200	Active TSS	Esophagus	oesophagus
17	chr4:74734800-74736000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr4:74734800-74736000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr4:74734800-74736000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:74734800-74736000	Active TSS	Right Ventricle	heart
21	chr4:74734800-74736200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr4:74734800-74736200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:74734800-74736200	Bivalent/Poised TSS	Psoas Muscle	Psoas
24	chr4:74734800-74736200	Active TSS	Spleen	Spleen
25	chr4:74734800-74736600	Active TSS	NHDF-Ad	bronchial
26	chr4:74734800-74736800	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr4:74735000-74736000	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr4:74735000-74736800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:74735000-74737000	Active TSS	Muscle Satellite Cultured Cells	--
30	chr4:74735000-74737400	Active TSS	Primary hematopoietic stem cells	blood
31	chr4:74735200-74736200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr4:74735200-74736600	Flanking Active TSS	HMEC	breast
33	chr4:74735400-74736000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr4:74735400-74736000	Flanking Active TSS	Osteobl	bone
35	chr4:74735400-74736200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:74735400-74736200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
37	chr4:74735400-74736200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
38	chr4:74735400-74736200	Bivalent/Poised TSS	Small Intestine	intestine
39	chr4:74735400-74736400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:74735400-74736400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:74735400-74736400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr4:74735400-74736400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr4:74735400-74737000	Flanking Active TSS	HUVEC	blood vessel
44	chr4:74735400-74738000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr4:74735600-74736000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
46	chr4:74735600-74736000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr4:74735600-74736000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr4:74735600-74736000	Flanking Active TSS	Lung	lung
49	chr4:74735600-74736200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
50	chr4:74735600-74736400	Active TSS	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links