Variant report

Variant	rs62464967
Chromosome Location	chr7:66616292-66616293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs12530524	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12530887	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12532208	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12532995	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12534156	0.86[EUR][1000 genomes]
rs12534278	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12535023	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12536147	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12537353	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12537414	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12537633	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12538054	0.94[ASN][1000 genomes]
rs12538144	0.94[ASN][1000 genomes]
rs12538152	0.86[EUR][1000 genomes]
rs12538724	0.83[EUR][1000 genomes]
rs12539202	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12540025	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2844164	0.80[AMR][1000 genomes]
rs35448884	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4718450	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62464960	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62464964	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62464966	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62464968	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62464972	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62464974	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62464975	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62464976	0.91[ASN][1000 genomes]
rs62464977	0.91[ASN][1000 genomes]
rs62466612	0.86[EUR][1000 genomes]
rs62466613	0.86[EUR][1000 genomes]
rs62466616	0.86[EUR][1000 genomes]
rs62466618	0.80[EUR][1000 genomes]
rs62466620	0.80[EUR][1000 genomes]
rs62466625	0.83[EUR][1000 genomes]
rs62466632	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62466633	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62466634	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62466635	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62466637	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62466638	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62466639	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62466640	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62466642	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62466657	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62466659	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62468371	0.91[EUR][1000 genomes]
rs62468374	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62468375	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62468378	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62468379	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62468380	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62468381	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62468382	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62468385	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62468386	0.86[ASN][1000 genomes]
rs62468402	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62468403	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv888330	chr7:66502171-66877880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
4	nsv831019	chr7:66516808-66720485	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv966838	chr7:66548076-66617503	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
6	esv1802655	chr7:66576034-66634666	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
7	esv1816643	chr7:66576034-66634666	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
8	esv1840497	chr7:66576034-66634666	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
9	esv1851064	chr7:66576034-66634666	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
10	esv1850306	chr7:66601324-66632583	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
11	esv1832033	chr7:66601324-66637001	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
12	esv1822512	chr7:66613751-66637001	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases
13	esv1826252	chr7:66613751-66637001	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66533800-66623200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:66545600-66616600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:66550000-66624000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:66576600-66616600	Weak transcription	Fetal Stomach	stomach
5	chr7:66584400-66624400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:66585000-66622400	Weak transcription	HSMM	muscle
7	chr7:66585000-66623600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:66585200-66627200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:66591400-66620000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:66591600-66626400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:66594000-66622000	Weak transcription	Pancreas	Pancrea
12	chr7:66594200-66623800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:66594600-66617800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:66594600-66620200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:66594600-66621800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:66594800-66623000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:66594800-66626800	Weak transcription	Dnd41	blood
18	chr7:66595000-66618800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:66595000-66627400	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr7:66595200-66616400	Weak transcription	GM12878-XiMat	blood
21	chr7:66595400-66620400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:66595600-66616600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr7:66596000-66618800	Weak transcription	Fetal Intestine Large	intestine
24	chr7:66596000-66619200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr7:66596000-66620200	Weak transcription	Primary B cells from cord blood	blood
26	chr7:66596000-66620400	Weak transcription	Adipose Nuclei	Adipose
27	chr7:66598600-66616400	Weak transcription	Fetal Intestine Small	intestine
28	chr7:66600400-66623400	Weak transcription	Brain Hippocampus Middle	brain
29	chr7:66600800-66625000	Weak transcription	Left Ventricle	heart
30	chr7:66603200-66617000	Weak transcription	Primary T cells from cord blood	blood
31	chr7:66603200-66626600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:66604600-66624000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:66608800-66628200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:66608800-66632600	Weak transcription	Ovary	ovary
35	chr7:66609800-66620400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:66609800-66624400	Weak transcription	Liver	Liver
37	chr7:66612000-66619600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr7:66612000-66620200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr7:66612400-66627600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:66613200-66626400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:66614200-66628000	Weak transcription	K562	blood
42	chr7:66614400-66618800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr7:66614800-66617600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr7:66615800-66616600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr7:66615800-66617400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr7:66616000-66626800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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