Variant report

Variant	rs6780493
Chromosome Location	chr3:67610304-67610305
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11709337	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11929213	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12485966	0.81[ASN][1000 genomes]
rs12496418	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12497990	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1590875	0.81[ASN][1000 genomes]
rs4856878	0.81[ASN][1000 genomes]
rs56033013	0.81[ASN][1000 genomes]
rs56067370	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs56193099	0.81[ASN][1000 genomes]
rs57578558	0.81[ASN][1000 genomes]
rs59116776	0.81[ASN][1000 genomes]
rs59816011	0.81[ASN][1000 genomes]
rs60923125	0.81[ASN][1000 genomes]
rs6788296	0.82[EUR][1000 genomes]
rs7618449	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][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	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
2	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
3	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
4	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
5	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
6	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
7	nsv508222	chr3:67604888-67613173	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	n/a	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	chr3:67579200-67620600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr3:67579400-67623000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr3:67579400-67633800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr3:67579400-67657600	Weak transcription	Pancreas	Pancrea
8	chr3:67580800-67620200	Weak transcription	GM12878-XiMat	blood
9	chr3:67582200-67637000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:67582400-67620400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:67582600-67612000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:67587000-67620200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:67587400-67628000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:67589800-67615000	Weak transcription	HSMMtube	muscle
15	chr3:67591400-67620200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:67591600-67611200	Weak transcription	HepG2	liver
17	chr3:67594000-67612400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:67594000-67620600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:67594000-67631000	Weak transcription	K562	blood
20	chr3:67594400-67610400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:67595000-67639400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:67596400-67629000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:67598000-67644200	Weak transcription	NHLF	lung
24	chr3:67598200-67618400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:67598800-67616400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr3:67599600-67620800	Weak transcription	Dnd41	blood
27	chr3:67599600-67621000	Weak transcription	Fetal Muscle Leg	muscle
28	chr3:67599600-67629000	Weak transcription	Right Ventricle	heart
29	chr3:67600200-67628800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:67600400-67620600	Weak transcription	HMEC	breast
31	chr3:67600400-67624400	Weak transcription	Adipose Nuclei	Adipose
32	chr3:67600600-67611600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr3:67600800-67621000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr3:67601800-67673000	Weak transcription	Fetal Heart	heart
35	chr3:67602200-67619800	Weak transcription	Fetal Intestine Small	intestine
36	chr3:67602200-67620800	Weak transcription	Fetal Stomach	stomach
37	chr3:67602200-67644200	Weak transcription	Gastric	stomach
38	chr3:67602200-67654800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr3:67602200-67655400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr3:67602200-67656000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr3:67602400-67610800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr3:67602400-67611200	Weak transcription	A549	lung
43	chr3:67602400-67619400	Weak transcription	Lung	lung
44	chr3:67602400-67624000	Weak transcription	Psoas Muscle	Psoas
45	chr3:67602400-67646200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr3:67602600-67635600	Weak transcription	Aorta	Aorta
47	chr3:67603800-67614200	Weak transcription	Thymus	Thymus
48	chr3:67604200-67611400	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr3:67605200-67611000	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr3:67605600-67610800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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