Variant report

Variant	rs10176835
Chromosome Location	chr2:55396417-55396418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55240924..55243759-chr2:55395356..55397522,2	K562	blood:
2	chr2:55396152..55398981-chr2:55400829..55403298,2	MCF-7	breast:
3	chr2:55396231..55398049-chr2:55458251..55460461,2	K562	blood:
4	chr2:55273899..55278013-chr2:55394987..55400290,7	K562	blood:
5	chr2:55241591..55242697-chr2:55395415..55396418,7	MCF-7	breast:
6	chr2:55251918..55254652-chr2:55395890..55398049,2	K562	blood:
7	chr2:55394216..55396855-chr2:55401149..55403821,2	K562	blood:
8	chr2:55254227..55256679-chr2:55395838..55397468,2	K562	blood:
9	chr2:55396357..55398246-chr2:55402197..55406122,3	MCF-7	breast:
10	chr2:55126697..55127637-chr2:55395567..55396788,4	K562	blood:
11	chr2:55275783..55278013-chr2:55394198..55397050,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162994	Chromatin interaction
ENSG00000115310	Chromatin interaction
ENSG00000143947	Chromatin interaction
ENSG00000200086	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10175803	0.87[AFR][1000 genomes]
rs10179352	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10193886	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10200424	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10208867	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11125559	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13395515	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13420684	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13427699	0.90[AFR][1000 genomes]
rs1437390	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1437393	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1669	0.89[AFR][1000 genomes]
rs2118284	0.85[AFR][1000 genomes]
rs62135101	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6545477	0.91[AFR][1000 genomes]
rs6711753	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6720077	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6727118	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6727131	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6747364	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6757361	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9677948	0.86[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	nsv1010438	chr2:55373562-55450144	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55386800-55416600	Weak transcription	Esophagus	oesophagus
2	chr2:55389200-55397400	Enhancers	NHLF	lung
3	chr2:55391000-55397000	Enhancers	Brain Angular Gyrus	brain
4	chr2:55391200-55397000	Enhancers	NHDF-Ad	bronchial
5	chr2:55392000-55397400	Enhancers	HSMM	muscle
6	chr2:55392800-55400400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:55393000-55404000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:55393000-55422000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:55394000-55419000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:55394600-55397000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:55395200-55397200	Enhancers	NH-A	brain
12	chr2:55395200-55400200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:55395400-55396800	Enhancers	Brain Anterior Caudate	brain
14	chr2:55395400-55397200	Enhancers	Brain Cingulate Gyrus	brain
15	chr2:55395400-55397200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:55395400-55397400	Enhancers	Brain Substantia Nigra	brain
17	chr2:55395400-55398400	Enhancers	Brain Hippocampus Middle	brain
18	chr2:55395400-55400200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:55395600-55397000	Weak transcription	Pancreas	Pancrea
20	chr2:55395600-55397400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:55395600-55397400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:55395600-55399400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:55395600-55399400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:55395600-55400200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:55395600-55400600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:55395600-55400600	Weak transcription	Brain Germinal Matrix	brain
27	chr2:55395600-55412400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:55395600-55422800	Weak transcription	Ovary	ovary
29	chr2:55395600-55427000	Weak transcription	Left Ventricle	heart
30	chr2:55395800-55397000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:55395800-55397200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:55395800-55397200	Weak transcription	Stomach Mucosa	stomach
33	chr2:55395800-55397400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:55395800-55397400	Enhancers	HSMMtube	muscle
35	chr2:55395800-55397400	Enhancers	Osteobl	bone
36	chr2:55395800-55398600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:55395800-55400000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:55395800-55400200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:55395800-55400200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:55395800-55400200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:55395800-55400600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:55395800-55400600	Weak transcription	Fetal Kidney	kidney
43	chr2:55395800-55402400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr2:55395800-55403000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:55395800-55403000	Weak transcription	Fetal Brain Male	brain
46	chr2:55395800-55418200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr2:55395800-55418400	Weak transcription	Fetal Intestine Large	intestine
48	chr2:55395800-55427000	Weak transcription	Aorta	Aorta
49	chr2:55396000-55400600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:55396200-55397000	Weak transcription	Rectal Smooth Muscle	rectum

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