Variant report

Variant	rs274014
Chromosome Location	chr7:137653356-137653357
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:137650405..137652234-chr7:137652303..137653977,2	K562	blood:
2	chr7:137652166..137654948-chr7:137667610..137670033,2	K562	blood:
3	chr7:137652427..137654026-chr7:137674735..137676938,2	K562	blood:
4	chr7:137650568..137655149-chr7:137681332..137686254,5	K562	blood:
5	chr7:137652817..137656770-chr7:137658404..137661649,6	K562	blood:
6	chr7:137634525..137637267-chr7:137652549..137655097,2	MCF-7	breast:
7	chr7:137637694..137640189-chr7:137652871..137655476,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000237243	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10275270	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12534066	0.91[ASN][1000 genomes]
rs274006	0.94[ASN][1000 genomes]
rs274007	0.94[ASN][1000 genomes]
rs274011	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs274013	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58899905	0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137635200-137663400	Weak transcription	Primary B cells from cord blood	blood
2	chr7:137639000-137654800	Weak transcription	Brain Angular Gyrus	brain
3	chr7:137639400-137655000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:137640000-137654600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:137643800-137654800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:137644000-137655400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr7:137644200-137653400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:137646600-137657600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr7:137647600-137653600	Enhancers	Placenta	Placenta
10	chr7:137648800-137653400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr7:137649800-137658000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:137650200-137654800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:137650200-137660200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr7:137650400-137653600	Enhancers	Ovary	ovary
15	chr7:137650600-137653400	Enhancers	Pancreas	Pancrea
16	chr7:137650600-137656400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:137650800-137653600	Enhancers	Osteobl	bone
18	chr7:137651200-137653600	Enhancers	Aorta	Aorta
19	chr7:137651200-137656400	Enhancers	NH-A	brain
20	chr7:137651400-137653600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:137651400-137675200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr7:137651600-137653800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:137651600-137654800	Enhancers	NHDF-Ad	bronchial
24	chr7:137651800-137654000	Enhancers	Gastric	stomach
25	chr7:137651800-137655600	Enhancers	Left Ventricle	heart
26	chr7:137652000-137655000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:137652000-137657600	Weak transcription	Small Intestine	intestine
28	chr7:137652200-137654400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:137652200-137654800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr7:137652200-137672200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr7:137652400-137655000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:137652600-137653800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr7:137652600-137654800	Weak transcription	Hela-S3	cervix
34	chr7:137652600-137654800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr7:137652600-137655000	Weak transcription	Colonic Mucosa	Colon
36	chr7:137652600-137655200	Weak transcription	Fetal Intestine Large	intestine
37	chr7:137652600-137655400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:137652600-137655400	Weak transcription	Psoas Muscle	Psoas
39	chr7:137652600-137659400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr7:137652600-137672600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:137652800-137653400	Enhancers	K562	blood
42	chr7:137652800-137653800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:137652800-137653800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:137652800-137654200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:137652800-137654600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr7:137652800-137654600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr7:137652800-137654800	Weak transcription	Brain Hippocampus Middle	brain
48	chr7:137652800-137654800	Weak transcription	Fetal Lung	lung
49	chr7:137652800-137654800	Weak transcription	HSMMtube	muscle
50	chr7:137652800-137655000	Enhancers	Muscle Satellite Cultured Cells	--

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