Variant report

Variant	rs60954711
Chromosome Location	chr3:67600849-67600850
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11127657	0.95[EUR][1000 genomes]
rs11924268	0.83[EUR][1000 genomes]
rs13087877	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17046574	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17046581	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17046584	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17046587	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17046689	0.83[EUR][1000 genomes]
rs2363091	0.95[EUR][1000 genomes]
rs2885692	0.83[EUR][1000 genomes]
rs56104253	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56369665	1.00[EUR][1000 genomes]
rs57450793	0.83[EUR][1000 genomes]
rs58735333	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59742261	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60283689	0.83[EUR][1000 genomes]
rs6765734	0.87[EUR][1000 genomes]
rs6772446	0.87[EUR][1000 genomes]
rs6798438	0.87[EUR][1000 genomes]
rs6810139	0.87[EUR][1000 genomes]
rs72927343	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72929333	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007093	chr3:67113534-67602973	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv470638	chr3:67367341-67814738	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv460700	chr3:67393629-67712970	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv590560	chr3:67393629-67712970	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1012416	chr3:67546244-67615531	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv590561	chr3:67548852-67690626	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3359258	chr3:67589615-67828274	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67560600-67620800	Weak transcription	Esophagus	oesophagus
2	chr3:67578200-67612400	Weak transcription	Spleen	Spleen
3	chr3:67578200-67634600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr3:67578600-67601800	Weak transcription	Left Ventricle	heart
5	chr3:67579200-67603400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:67579200-67608800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:67579200-67620600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr3:67579400-67623000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr3:67579400-67633800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr3:67579400-67657600	Weak transcription	Pancreas	Pancrea
11	chr3:67579600-67601000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr3:67579600-67601800	Weak transcription	Fetal Intestine Large	intestine
13	chr3:67579600-67601800	Weak transcription	Ovary	ovary
14	chr3:67580000-67606400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr3:67580800-67620200	Weak transcription	GM12878-XiMat	blood
16	chr3:67582000-67601600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:67582200-67637000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr3:67582400-67609000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:67582400-67620400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:67582600-67612000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:67584400-67601600	Weak transcription	A549	lung
22	chr3:67587000-67620200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:67587400-67628000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:67588800-67602200	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr3:67589000-67603000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr3:67589800-67615000	Weak transcription	HSMMtube	muscle
27	chr3:67591400-67620200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:67591600-67606200	Weak transcription	Liver	Liver
29	chr3:67591600-67611200	Weak transcription	HepG2	liver
30	chr3:67593000-67604600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr3:67594000-67612400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:67594000-67620600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:67594000-67631000	Weak transcription	K562	blood
34	chr3:67594400-67610400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:67594800-67601600	Weak transcription	Fetal Lung	lung
36	chr3:67594800-67605200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr3:67594800-67606200	Weak transcription	Osteobl	bone
38	chr3:67595000-67639400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:67596000-67601800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:67596200-67601800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr3:67596200-67603400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr3:67596200-67608200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr3:67596200-67608800	Weak transcription	Small Intestine	intestine
44	chr3:67596400-67629000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:67598000-67644200	Weak transcription	NHLF	lung
46	chr3:67598200-67618400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:67598400-67601600	Weak transcription	Primary T cells from cord blood	blood
48	chr3:67598400-67601800	Weak transcription	Aorta	Aorta
49	chr3:67598400-67601800	Weak transcription	Gastric	stomach
50	chr3:67598800-67616400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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