Variant report

Variant	rs10249247
Chromosome Location	chr7:138561175-138561176
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10252467	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261424	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10261559	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10278730	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10954634	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12114019	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34717241	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34851167	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6958217	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6961366	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6968792	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6972391	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6974263	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6974361	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6979589	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv831154	chr7:138470488-138674113	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1027143	chr7:138480084-138992900	ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv539136	chr7:138480084-138992900	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 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	chr7:138518200-138565800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr7:138521000-138571000	Weak transcription	Brain Anterior Caudate	brain
3	chr7:138523800-138572400	Weak transcription	Fetal Heart	heart
4	chr7:138530800-138566000	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:138534600-138592400	Weak transcription	Brain Angular Gyrus	brain
6	chr7:138536800-138565200	Weak transcription	Fetal Kidney	kidney
7	chr7:138536800-138583000	Weak transcription	HUVEC	blood vessel
8	chr7:138539200-138570400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:138542600-138568400	Weak transcription	HepG2	liver
10	chr7:138543000-138569000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:138543400-138561200	Weak transcription	HSMM	muscle
12	chr7:138543400-138565800	Weak transcription	Adipose Nuclei	Adipose
13	chr7:138544400-138565800	Weak transcription	Brain Substantia Nigra	brain
14	chr7:138544600-138574800	Weak transcription	Spleen	Spleen
15	chr7:138545400-138597200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:138546000-138566200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:138546200-138569400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:138546200-138571400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:138547000-138565400	Weak transcription	Right Atrium	heart
20	chr7:138547200-138561200	Weak transcription	NHLF	lung
21	chr7:138549200-138596800	Weak transcription	Aorta	Aorta
22	chr7:138553000-138561200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:138553000-138592200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:138554200-138581600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:138554400-138565800	Weak transcription	Lung	lung
26	chr7:138554400-138574800	Weak transcription	Esophagus	oesophagus
27	chr7:138554600-138561400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:138555200-138566000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:138555400-138565600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:138555400-138566200	Weak transcription	Gastric	stomach
31	chr7:138555400-138575400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:138555600-138563800	Weak transcription	Left Ventricle	heart
33	chr7:138555600-138565400	Weak transcription	Placenta	Placenta
34	chr7:138555600-138565600	Weak transcription	Fetal Lung	lung
35	chr7:138555600-138578800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr7:138556200-138563000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:138556200-138563200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:138556200-138563400	Weak transcription	Fetal Intestine Large	intestine
39	chr7:138556200-138563800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:138556200-138564200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:138556200-138564600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr7:138556200-138565400	Weak transcription	Pancreas	Pancrea
43	chr7:138556200-138565600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:138556200-138575400	Weak transcription	Ovary	ovary
45	chr7:138556200-138578400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:138556400-138563200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr7:138556600-138561200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:138556600-138561400	Weak transcription	HSMMtube	muscle
49	chr7:138556600-138562600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:138556600-138563600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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