Variant report

Variant	rs12540298
Chromosome Location	chr7:66498683-66498684
allele	C/G
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:17)

rs_ID	r²[population]
rs12534892	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12540243	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1879852	0.90[ASN][1000 genomes]
rs1879853	0.83[ASN][1000 genomes]
rs3748107	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3864349	0.84[ASN][1000 genomes]
rs4610623	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55694864	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59248739	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59775098	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62466615	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62466617	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62466619	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62466623	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62466626	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62466627	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7806639	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1032575	chr7:66432853-66576034	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv981515	chr7:66477535-66532313	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv824151	chr7:66494072-66508524	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv33653	chr7:66494301-66508342	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66462400-66500200	Weak transcription	Psoas Muscle	Psoas
2	chr7:66462400-66508000	Weak transcription	Stomach Mucosa	stomach
3	chr7:66463000-66507800	Weak transcription	Fetal Brain Male	brain
4	chr7:66463200-66510000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:66477000-66499000	Weak transcription	Colonic Mucosa	Colon
6	chr7:66483400-66502000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:66483400-66551200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:66483600-66534400	Weak transcription	Aorta	Aorta
9	chr7:66485800-66501000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:66486400-66531600	Weak transcription	Ovary	ovary
11	chr7:66486600-66507600	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:66487000-66515800	Weak transcription	Fetal Brain Female	brain
13	chr7:66487000-66576600	Weak transcription	Gastric	stomach
14	chr7:66487800-66508600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:66488000-66500200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:66488000-66501000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:66488000-66501000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr7:66488000-66501400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:66488000-66501400	Weak transcription	Hela-S3	cervix
20	chr7:66488000-66502000	Weak transcription	Brain Angular Gyrus	brain
21	chr7:66488000-66508600	Weak transcription	Fetal Lung	lung
22	chr7:66488000-66511800	Weak transcription	HepG2	liver
23	chr7:66488400-66501000	Weak transcription	Brain Anterior Caudate	brain
24	chr7:66488400-66501800	Weak transcription	Fetal Heart	heart
25	chr7:66488800-66500200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:66490800-66505600	Weak transcription	Small Intestine	intestine
27	chr7:66491000-66501400	Weak transcription	HSMM	muscle
28	chr7:66491000-66507600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:66491200-66500800	Weak transcription	HSMMtube	muscle
30	chr7:66491200-66506000	Weak transcription	Osteobl	bone
31	chr7:66493600-66506000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr7:66495000-66501200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:66495000-66502000	Weak transcription	Left Ventricle	heart
34	chr7:66495000-66532200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr7:66495200-66500800	Weak transcription	Brain Hippocampus Middle	brain
36	chr7:66495200-66506000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:66495200-66507400	Weak transcription	A549	lung
38	chr7:66495200-66507800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:66495200-66507800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr7:66495200-66508000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:66495200-66508000	Weak transcription	NH-A	brain
42	chr7:66495200-66510600	Weak transcription	Primary B cells from cord blood	blood
43	chr7:66495200-66515400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:66495200-66515800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr7:66495200-66516400	Weak transcription	Primary T cells from cord blood	blood
46	chr7:66495200-66516600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr7:66495200-66523000	Weak transcription	Esophagus	oesophagus
48	chr7:66495200-66523600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:66495200-66538000	Weak transcription	Brain Germinal Matrix	brain
50	chr7:66495200-66539400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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