Variant report

Variant	rs1992521
Chromosome Location	chr3:105511196-105511197
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10460808	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1075739	0.81[EUR][1000 genomes]
rs12633654	0.82[EUR][1000 genomes]
rs12635232	0.81[EUR][1000 genomes]
rs12637560	0.81[EUR][1000 genomes]
rs12637809	0.82[EUR][1000 genomes]
rs12639271	0.81[EUR][1000 genomes]
rs1561922	0.82[EUR][1000 genomes]
rs16844736	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16851523	0.81[EUR][1000 genomes]
rs16851539	0.81[EUR][1000 genomes]
rs16851563	0.81[EUR][1000 genomes]
rs16851587	0.82[EUR][1000 genomes]
rs16851630	0.82[EUR][1000 genomes]
rs1947000	0.81[EUR][1000 genomes]
rs2028597	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2197208	0.81[EUR][1000 genomes]
rs2301036	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2301048	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3772540	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57735492	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59534462	0.82[EUR][1000 genomes]
rs59611997	0.82[EUR][1000 genomes]
rs73854891	0.82[EUR][1000 genomes]
rs73854894	0.82[EUR][1000 genomes]
rs73857222	0.82[EUR][1000 genomes]
rs7624400	0.81[EUR][1000 genomes]
rs7641825	0.86[ASN][1000 genomes]
rs7649466	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877309	chr3:105373836-105542435	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv2755185	chr3:105378310-105597310	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105478600-105511200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr3:105482000-105511200	Weak transcription	Aorta	Aorta
3	chr3:105482800-105517400	Weak transcription	Fetal Intestine Large	intestine
4	chr3:105483200-105555200	Weak transcription	Placenta	Placenta
5	chr3:105486800-105519000	Weak transcription	Esophagus	oesophagus
6	chr3:105489600-105525400	Weak transcription	Fetal Intestine Small	intestine
7	chr3:105493000-105511200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:105493000-105511200	Weak transcription	Right Atrium	heart
9	chr3:105494400-105516200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:105495400-105517200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:105496400-105514000	Weak transcription	Lung	lung
12	chr3:105501800-105516600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr3:105505000-105527800	Weak transcription	Pancreas	Pancrea
14	chr3:105505000-105548200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:105505600-105517400	Weak transcription	Brain Substantia Nigra	brain
16	chr3:105506200-105516000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr3:105506600-105518200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:105507000-105511800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:105509000-105512200	Enhancers	Fetal Heart	heart
20	chr3:105509000-105515000	Weak transcription	Fetal Kidney	kidney
21	chr3:105509200-105513800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr3:105509200-105514000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr3:105509400-105511200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:105509400-105511800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:105509400-105512000	Enhancers	NH-A	brain
26	chr3:105509400-105512200	Strong transcription	Primary B cells from cord blood	blood
27	chr3:105509400-105512200	Enhancers	Adipose Nuclei	Adipose
28	chr3:105509400-105512400	Enhancers	NHLF	lung
29	chr3:105509400-105512600	Enhancers	Colon Smooth Muscle	Colon
30	chr3:105509400-105513400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr3:105509400-105513600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr3:105509600-105512200	Enhancers	HMEC	breast
33	chr3:105509600-105512400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr3:105509800-105511400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr3:105509800-105511400	Weak transcription	Psoas Muscle	Psoas
36	chr3:105509800-105511800	Weak transcription	Left Ventricle	heart
37	chr3:105509800-105512600	Enhancers	HSMM	muscle
38	chr3:105509800-105512800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:105509800-105527800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr3:105510000-105511200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:105510000-105511200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr3:105510000-105511200	Enhancers	HSMMtube	muscle
43	chr3:105510000-105511600	Enhancers	Osteobl	bone
44	chr3:105510000-105517400	Weak transcription	Stomach Mucosa	stomach
45	chr3:105510200-105511200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:105510200-105511200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr3:105510200-105511200	Weak transcription	Fetal Muscle Leg	muscle
48	chr3:105510200-105511200	Weak transcription	Ovary	ovary
49	chr3:105510200-105511200	Weak transcription	Small Intestine	intestine
50	chr3:105510200-105511200	Enhancers	NHDF-Ad	bronchial

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