Variant report

Variant	rs34648309
Chromosome Location	chr4:143109097-143109098
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1219266	0.94[EUR][1000 genomes]
rs1219268	0.94[EUR][1000 genomes]
rs1219269	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1219270	0.93[EUR][1000 genomes]
rs1219272	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12500144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390994	0.94[EUR][1000 genomes]
rs1497139	0.96[EUR][1000 genomes]
rs1532450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs182862	0.94[EUR][1000 genomes]
rs1907109	0.87[AMR][1000 genomes]
rs1907113	0.82[EUR][1000 genomes]
rs1907117	0.82[EUR][1000 genomes]
rs1907119	0.82[EUR][1000 genomes]
rs1907135	0.94[EUR][1000 genomes]
rs1907137	0.82[EUR][1000 genomes]
rs1948323	0.82[EUR][1000 genomes]
rs2627812	0.81[EUR][1000 genomes]
rs2627817	0.82[EUR][1000 genomes]
rs2627834	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2636632	0.82[EUR][1000 genomes]
rs2636641	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2636642	0.82[EUR][1000 genomes]
rs2636643	0.82[EUR][1000 genomes]
rs2636647	0.82[EUR][1000 genomes]
rs2636655	0.86[EUR][1000 genomes]
rs2636656	0.86[EUR][1000 genomes]
rs2636657	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2636660	0.84[EUR][1000 genomes]
rs2636666	0.87[EUR][1000 genomes]
rs2636685	0.82[EUR][1000 genomes]
rs3102437	0.82[EUR][1000 genomes]
rs3102438	0.81[EUR][1000 genomes]
rs3102439	0.82[EUR][1000 genomes]
rs3102443	0.81[EUR][1000 genomes]
rs3113511	0.86[EUR][1000 genomes]
rs3113513	0.82[EUR][1000 genomes]
rs3113521	0.87[EUR][1000 genomes]
rs3113522	0.82[EUR][1000 genomes]
rs336384	0.94[EUR][1000 genomes]
rs992257	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830097	chr4:142949705-143136372	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv830098	chr4:143050143-143234384	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv595604	chr4:143077401-143228914	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143018800-143109600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:143049800-143114400	Weak transcription	Right Ventricle	heart
3	chr4:143052400-143111600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:143057800-143114400	Weak transcription	Aorta	Aorta
5	chr4:143058000-143181000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:143069800-143112200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:143070400-143134400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:143071000-143117800	Weak transcription	Psoas Muscle	Psoas
9	chr4:143072000-143137000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:143076800-143113200	Weak transcription	Pancreas	Pancrea
11	chr4:143081000-143128200	Weak transcription	NHDF-Ad	bronchial
12	chr4:143082000-143130000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:143082400-143134800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:143082800-143115800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr4:143089400-143118000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr4:143090000-143117400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:143092400-143116200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:143092400-143131000	Weak transcription	Fetal Intestine Large	intestine
19	chr4:143094800-143114000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr4:143095000-143115400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:143095000-143128000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:143095000-143128200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr4:143095000-143154200	Weak transcription	Left Ventricle	heart
24	chr4:143095600-143112400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:143097800-143114600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:143098400-143112400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr4:143098400-143113800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr4:143098600-143116600	Weak transcription	Fetal Intestine Small	intestine
29	chr4:143099400-143110000	Weak transcription	HMEC	breast
30	chr4:143099400-143112200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:143099800-143112400	Weak transcription	NHEK	skin
32	chr4:143102400-143109200	Weak transcription	A549	lung
33	chr4:143102400-143125600	Weak transcription	Fetal Muscle Leg	muscle
34	chr4:143102400-143128000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr4:143102800-143112000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:143103800-143116000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr4:143104400-143112200	Weak transcription	HSMMtube	muscle
38	chr4:143104600-143112000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:143104800-143115600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr4:143105600-143113800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:143105800-143110000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr4:143106000-143110400	Weak transcription	Dnd41	blood
43	chr4:143106200-143109800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr4:143106400-143111400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:143106400-143112000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr4:143107800-143110200	Weak transcription	Primary T cells from cord blood	blood
47	chr4:143108000-143112400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr4:143108000-143112400	Weak transcription	HSMM	muscle
49	chr4:143108200-143110200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:143108200-143112400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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