Variant report

Variant	rs34750481
Chromosome Location	chr7:117437469-117437470
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:117429360..117433288-chr7:117436713..117439154,3	K562	blood:
2	chr7:117430433..117432974-chr7:117435592..117438238,2	K562	blood:

Variant related genes	Relation type
ENSG00000077063	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs34308090	1.00[AMR][1000 genomes]
rs34676706	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34700268	1.00[AFR][1000 genomes]
rs34954896	0.85[AFR][1000 genomes]
rs34968508	0.85[AFR][1000 genomes]
rs35047237	1.00[AMR][1000 genomes]
rs35124462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35154668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35222380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35570750	1.00[AMR][1000 genomes]
rs35948094	1.00[AMR][1000 genomes]
rs7811545	1.00[AFR][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	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 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	chr7:117396400-117450200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:117421400-117444400	Weak transcription	Fetal Heart	heart
3	chr7:117428400-117448600	Weak transcription	Fetal Kidney	kidney
4	chr7:117431800-117447800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:117432200-117453000	Weak transcription	Aorta	Aorta
6	chr7:117432400-117447600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:117432400-117447800	Weak transcription	Brain Germinal Matrix	brain
8	chr7:117432600-117446000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:117432600-117446200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:117432600-117447600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:117432600-117447800	Weak transcription	Fetal Lung	lung
12	chr7:117432600-117448800	Weak transcription	Fetal Intestine Small	intestine
13	chr7:117432800-117441000	Weak transcription	NHLF	lung
14	chr7:117432800-117445200	Weak transcription	Fetal Brain Female	brain
15	chr7:117432800-117446000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:117432800-117447600	Weak transcription	Adipose Nuclei	Adipose
17	chr7:117432800-117448200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:117432800-117451800	Weak transcription	Fetal Stomach	stomach
19	chr7:117433000-117440000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:117433800-117444000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:117433800-117444000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:117433800-117447800	Weak transcription	Esophagus	oesophagus
23	chr7:117434200-117447000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:117434800-117445400	Weak transcription	Brain Anterior Caudate	brain
25	chr7:117434800-117447400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:117437000-117437600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr7:117437000-117437600	Enhancers	Brain Substantia Nigra	brain
28	chr7:117437200-117437600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:117437200-117437600	Enhancers	Fetal Brain Male	brain
30	chr7:117437200-117438400	Enhancers	Brain Angular Gyrus	brain
31	chr7:117437200-117439600	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:117437400-117437600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr7:117437400-117439600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:117437400-117439600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:117437400-117440800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr7:117437400-117444800	Weak transcription	Pancreas	Pancrea
37	chr7:117437400-117445800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:117437400-117456200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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