Variant report

Variant	rs12253831
Chromosome Location	chr10:118749941-118749942
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:118749831..118751722-chr10:118756839..118758419,2	K562	blood:
2	chr10:118749248..118750819-chr10:118752042..118753828,2	K562	blood:
3	chr10:118747095..118751622-chr10:118752184..118758339,7	K562	blood:
4	chr10:118731343..118732949-chr10:118747985..118750753,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11197849	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12251703	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12254776	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12265399	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3981230	0.90[AFR][1000 genomes]
rs6585421	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7900137	1.00[AMR][1000 genomes]
rs7904582	1.00[AMR][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	esv2755506	chr10:118748764-118800107	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118703600-118752200	Weak transcription	Gastric	stomach
2	chr10:118721600-118764000	Weak transcription	Ovary	ovary
3	chr10:118725200-118763000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:118735000-118752000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr10:118735000-118762800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:118736200-118751400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr10:118736400-118753000	Weak transcription	Liver	Liver
8	chr10:118737200-118750000	Weak transcription	A549	lung
9	chr10:118737200-118762800	Weak transcription	NHEK	skin
10	chr10:118737400-118760200	Weak transcription	Pancreas	Pancrea
11	chr10:118738800-118762800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr10:118739200-118750000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr10:118739400-118750800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr10:118741000-118756400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr10:118745000-118760400	Weak transcription	K562	blood
16	chr10:118745600-118751800	Weak transcription	Hela-S3	cervix
17	chr10:118747400-118763000	Weak transcription	HUVEC	blood vessel
18	chr10:118747600-118753000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr10:118748200-118750000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr10:118748200-118750200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:118748200-118750200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr10:118748200-118750800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr10:118748200-118750800	Enhancers	Brain Hippocampus Middle	brain
24	chr10:118748200-118752600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr10:118748200-118753600	Enhancers	Brain Substantia Nigra	brain
26	chr10:118748400-118750000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr10:118748400-118750200	Enhancers	Brain Cingulate Gyrus	brain
28	chr10:118748400-118750400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr10:118748400-118752400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr10:118748600-118750000	Enhancers	HepG2	liver
31	chr10:118748600-118750200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr10:118748600-118752600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr10:118748800-118750000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr10:118748800-118750200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr10:118748800-118750400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr10:118748800-118751200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr10:118748800-118751800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:118749000-118750000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr10:118749000-118750200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr10:118749000-118750400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr10:118749200-118750000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr10:118749200-118751200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr10:118749400-118750800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr10:118749400-118750800	Weak transcription	Fetal Intestine Small	intestine
45	chr10:118749600-118751600	Weak transcription	Brain Angular Gyrus	brain
46	chr10:118749600-118754000	Weak transcription	Fetal Intestine Large	intestine
47	chr10:118749800-118750200	Weak transcription	Brain Anterior Caudate	brain
48	chr10:118749800-118759600	Weak transcription	Brain Germinal Matrix	brain

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