Variant report

Variant	rs343169
Chromosome Location	chr4:121816087-121816088
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11098590	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11098591	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1450460	1.00[EUR][1000 genomes]
rs1551079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.92[TSI][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs168224	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs168225	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17051273	0.82[JPT][hapmap]
rs17051279	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[TSI][hapmap];1.00[EUR][1000 genomes]
rs17051281	1.00[EUR][1000 genomes]
rs2167204	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2390060	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[TSI][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2667195	0.81[LWK][hapmap];0.87[MKK][hapmap]
rs28611188	1.00[EUR][1000 genomes]
rs3114956	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3115311	0.85[ASW][hapmap];0.88[LWK][hapmap];0.85[MKK][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes]
rs343167	0.81[LWK][hapmap];0.83[MKK][hapmap]
rs343168	0.81[LWK][hapmap];0.83[MKK][hapmap]
rs343170	0.90[LWK][hapmap];0.85[MKK][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes]
rs343171	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs343172	1.00[CEU][hapmap];0.82[JPT][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs343193	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs343196	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs343199	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4274874	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.92[TSI][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72923591	1.00[EUR][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	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv980152	chr4:121807702-121817738	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121796400-121824400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:121797000-121823800	Weak transcription	Osteobl	bone
3	chr4:121798200-121842400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:121802200-121826600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:121803400-121822600	Weak transcription	Aorta	Aorta
6	chr4:121803400-121827400	Weak transcription	NHDF-Ad	bronchial
7	chr4:121804200-121822400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:121804800-121830200	Weak transcription	Fetal Heart	heart
9	chr4:121811200-121824600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr4:121812000-121831000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:121812000-121839400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:121812400-121836600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:121812800-121823000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr4:121812800-121824400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:121812800-121839800	Weak transcription	Psoas Muscle	Psoas
16	chr4:121813000-121824600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:121813000-121837400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:121813200-121824000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:121813400-121839400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:121813400-121841600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr4:121813600-121824000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:121813600-121839800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr4:121813800-121842400	Weak transcription	NHEK	skin
24	chr4:121814200-121839800	Weak transcription	Pancreas	Pancrea
25	chr4:121814400-121823200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:121814400-121824000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr4:121814600-121820000	Weak transcription	Fetal Stomach	stomach
28	chr4:121814600-121820200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:121814600-121820200	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:121814600-121820400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr4:121814600-121822600	Weak transcription	Fetal Intestine Large	intestine
32	chr4:121814600-121822800	Weak transcription	Fetal Intestine Small	intestine
33	chr4:121814600-121823600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:121814600-121823800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:121814600-121823800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:121814600-121824000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:121814600-121824200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:121814600-121824600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:121814600-121824600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:121814600-121828600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:121814600-121829000	Weak transcription	Ovary	ovary
42	chr4:121814600-121830400	Weak transcription	Lung	lung
43	chr4:121814600-121836600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr4:121814600-121840000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:121814600-121842600	Weak transcription	Right Ventricle	heart
46	chr4:121814800-121824000	Weak transcription	Fetal Lung	lung
47	chr4:121814800-121828200	Weak transcription	Colon Smooth Muscle	Colon
48	chr4:121815000-121819800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:121815200-121839800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:121815600-121822400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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