Variant report

Variant	rs6782194
Chromosome Location	chr3:67460996-67460997
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12485908	0.97[ASN][1000 genomes]
rs12495231	0.88[ASN][1000 genomes]
rs13066142	0.98[ASN][1000 genomes]
rs28420787	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4130104	0.97[ASN][1000 genomes]
rs4130105	0.97[ASN][1000 genomes]
rs61603523	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6548532	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6807734	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7616627	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7620047	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7620816	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7635889	0.88[AFR][1000 genomes]
rs9309789	0.89[AFR][1000 genomes]
rs9815896	0.89[AFR][1000 genomes]
rs9823702	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9823705	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9825584	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9826019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9827838	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9830906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9832372	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9833837	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9836798	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9836868	0.89[AFR][1000 genomes]
rs9836975	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9838227	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9843954	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9851352	0.95[ASN][1000 genomes]
rs9851810	0.95[ASN][1000 genomes]
rs9852251	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9852902	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9861758	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9865859	0.88[AFR][1000 genomes]
rs9871072	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9878336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9878672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9879429	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9882263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9883219	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	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	nsv834719	chr3:67396626-67589852	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67414400-67470800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr3:67420200-67479400	Weak transcription	Esophagus	oesophagus
3	chr3:67424600-67466000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:67424600-67471000	Weak transcription	Colonic Mucosa	Colon
5	chr3:67425000-67465200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:67425000-67474200	Weak transcription	Gastric	stomach
7	chr3:67427000-67462800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:67431600-67469400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:67433600-67465800	Weak transcription	NHLF	lung
10	chr3:67435000-67466000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr3:67435400-67462800	Weak transcription	HSMMtube	muscle
12	chr3:67435400-67467200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:67435600-67463200	Weak transcription	Fetal Lung	lung
14	chr3:67435600-67509800	Weak transcription	Ovary	ovary
15	chr3:67435600-67534200	Weak transcription	Aorta	Aorta
16	chr3:67435800-67462800	Weak transcription	Fetal Muscle Leg	muscle
17	chr3:67436000-67462800	Weak transcription	Right Ventricle	heart
18	chr3:67437400-67462200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:67440000-67470600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr3:67441200-67471600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:67442800-67465400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:67442800-67467200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:67442800-67478000	Weak transcription	Lung	lung
24	chr3:67443000-67462600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr3:67449400-67486600	Weak transcription	Fetal Stomach	stomach
26	chr3:67450400-67464000	Weak transcription	Small Intestine	intestine
27	chr3:67450600-67467200	Weak transcription	Osteobl	bone
28	chr3:67450600-67470200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr3:67450600-67470400	Weak transcription	A549	lung
30	chr3:67451200-67462600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr3:67451200-67466200	Weak transcription	NHDF-Ad	bronchial
32	chr3:67451200-67466600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr3:67451200-67470400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr3:67451200-67487800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:67451400-67464600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr3:67451400-67466200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:67451400-67470200	Weak transcription	Dnd41	blood
38	chr3:67453600-67470400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr3:67454000-67469800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:67454600-67478000	Weak transcription	Fetal Intestine Small	intestine
41	chr3:67455200-67470000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr3:67455200-67470400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr3:67455800-67466200	Weak transcription	Left Ventricle	heart
44	chr3:67457200-67462800	Weak transcription	Psoas Muscle	Psoas
45	chr3:67458200-67462000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr3:67458600-67470600	Weak transcription	HSMM	muscle
47	chr3:67458800-67463800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr3:67459000-67461200	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr3:67459000-67462600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr3:67459000-67465200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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