Variant report

Variant	rs17139460
Chromosome Location	chr7:116849725-116849726
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs58828661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59515456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60651772	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60871438	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6972980	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73714391	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73714392	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73714395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73714398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73716416	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831108	chr7:116749534-116952011	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv5916	chr7:116825221-116870570	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116785200-116856600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:116798000-116850000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:116798200-116866600	Weak transcription	HMEC	breast
4	chr7:116798400-116849800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:116805200-116850000	Weak transcription	Psoas Muscle	Psoas
6	chr7:116807600-116857800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:116808400-116871800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:116810200-116850000	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:116812200-116850000	Weak transcription	Hela-S3	cervix
10	chr7:116824200-116867200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr7:116825400-116859600	Weak transcription	Brain Anterior Caudate	brain
12	chr7:116827800-116859000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:116828800-116865400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:116830400-116849800	Weak transcription	Fetal Brain Male	brain
15	chr7:116830600-116853000	Weak transcription	NH-A	brain
16	chr7:116830800-116849800	Weak transcription	Brain Substantia Nigra	brain
17	chr7:116830800-116850200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr7:116830800-116859400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr7:116830800-116859600	Weak transcription	Gastric	stomach
20	chr7:116831000-116850200	Weak transcription	Esophagus	oesophagus
21	chr7:116831000-116870800	Weak transcription	Colon Smooth Muscle	Colon
22	chr7:116831000-116870800	Weak transcription	Spleen	Spleen
23	chr7:116831200-116865200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr7:116831400-116850200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr7:116831400-116850400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr7:116831400-116858800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:116831400-116859000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:116831400-116860400	Weak transcription	HepG2	liver
29	chr7:116831400-116861200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:116834000-116849800	Weak transcription	HSMMtube	muscle
31	chr7:116834200-116853200	Weak transcription	Osteobl	bone
32	chr7:116834400-116868800	Weak transcription	HSMM	muscle
33	chr7:116834600-116850000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr7:116834600-116850400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:116834600-116853000	Weak transcription	NHLF	lung
36	chr7:116835000-116871400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:116838800-116850000	Weak transcription	GM12878-XiMat	blood
38	chr7:116838800-116859600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr7:116839000-116868800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:116839200-116850000	Weak transcription	Left Ventricle	heart
41	chr7:116839400-116850000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:116839600-116850000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:116839800-116849800	Weak transcription	Adipose Nuclei	Adipose
44	chr7:116840000-116849800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:116840000-116850200	Weak transcription	Pancreas	Pancrea
46	chr7:116840000-116855600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:116840000-116859000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr7:116840000-116871800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr7:116840400-116849800	Weak transcription	Fetal Brain Female	brain
50	chr7:116840600-116859600	Weak transcription	Lung	lung

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