Variant report

Variant	rs10249078
Chromosome Location	chr7:111808214-111808215
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111806209..111808307-chr7:111810046..111812849,2	K562	blood:
2	chr7:111807988..111810235-chr7:111812835..111815049,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10046592	1.00[AMR][1000 genomes]
rs10234476	1.00[AMR][1000 genomes]
rs10249415	1.00[AMR][1000 genomes]
rs10253368	1.00[AMR][1000 genomes]
rs10254579	1.00[AMR][1000 genomes]
rs10480693	1.00[AMR][1000 genomes]
rs28524708	1.00[AMR][1000 genomes]
rs28680606	1.00[AMR][1000 genomes]
rs4730518	1.00[YRI][hapmap]
rs6466403	1.00[AMR][1000 genomes]
rs6466405	1.00[YRI][hapmap]
rs6972306	1.00[YRI][hapmap]
rs9656191	1.00[YRI][hapmap];1.00[AMR][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	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1016663	chr7:111622107-111813223	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111788200-111809600	Weak transcription	Aorta	Aorta
2	chr7:111796000-111813800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:111799000-111809000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr7:111800800-111813000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:111802600-111808400	Weak transcription	Pancreas	Pancrea
6	chr7:111802600-111811600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:111802600-111825200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:111803000-111825400	Weak transcription	NHEK	skin
9	chr7:111803200-111813000	Weak transcription	Fetal Lung	lung
10	chr7:111803200-111813000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:111803400-111813600	Weak transcription	Left Ventricle	heart
12	chr7:111803600-111808400	Weak transcription	Lung	lung
13	chr7:111803600-111813000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:111803600-111813400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:111803600-111820400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:111803600-111825400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:111803800-111811800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:111804000-111808400	Weak transcription	Right Ventricle	heart
19	chr7:111804200-111812000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:111804200-111813600	Weak transcription	Right Atrium	heart
21	chr7:111804200-111816200	Weak transcription	HepG2	liver
22	chr7:111804200-111816800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:111804800-111817400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:111805400-111813000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:111805600-111813800	Weak transcription	Ovary	ovary
26	chr7:111806200-111808400	Weak transcription	Brain Angular Gyrus	brain
27	chr7:111806200-111809400	Enhancers	HUVEC	blood vessel
28	chr7:111807000-111811600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:111807200-111809200	Enhancers	Brain Cingulate Gyrus	brain
30	chr7:111807200-111811000	Enhancers	Brain Substantia Nigra	brain
31	chr7:111807600-111808600	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:111807600-111813000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:111807600-111813000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr7:111807800-111808800	Weak transcription	Brain Anterior Caudate	brain
35	chr7:111807800-111809000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:111808200-111808800	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr7:111808200-111809400	Enhancers	Psoas Muscle	Psoas
38	chr7:111808200-111809800	Enhancers	Brain Inferior Temporal Lobe	brain

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