Variant report

Variant	rs10208867
Chromosome Location	chr2:55420317-55420318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55276244..55278085-chr2:55420013..55422421,2	K562	blood:
2	chr2:55418148..55421092-chr2:55618955..55620570,2	K562	blood:

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10175803	0.89[AFR][1000 genomes]
rs10176835	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10179352	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10193886	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10200424	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11125559	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13395515	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13420684	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13427699	0.86[AFR][1000 genomes]
rs1437390	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1437393	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1669	0.86[AFR][1000 genomes]
rs2118284	0.85[AFR][1000 genomes]
rs62135101	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6545477	0.90[AFR][1000 genomes]
rs6711753	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6720077	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6727118	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6727131	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6747364	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6757361	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9677948	0.86[AFR][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	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
2	nsv522016	chr2:55404794-55560298	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55393000-55422000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:55395600-55422800	Weak transcription	Ovary	ovary
3	chr2:55395600-55427000	Weak transcription	Left Ventricle	heart
4	chr2:55395800-55427000	Weak transcription	Aorta	Aorta
5	chr2:55397200-55450000	Weak transcription	NH-A	brain
6	chr2:55397400-55422400	Weak transcription	HSMMtube	muscle
7	chr2:55397400-55423000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:55399600-55423000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:55402600-55422000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:55402600-55423200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:55402800-55450000	Weak transcription	NHDF-Ad	bronchial
12	chr2:55403200-55423800	Weak transcription	Osteobl	bone
13	chr2:55403200-55426800	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:55403200-55431800	Weak transcription	Fetal Brain Male	brain
15	chr2:55403400-55423000	Weak transcription	NHEK	skin
16	chr2:55403600-55420600	Weak transcription	HSMM	muscle
17	chr2:55404200-55423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:55405400-55423000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:55406800-55423000	Weak transcription	Lung	lung
20	chr2:55408600-55423000	Weak transcription	Pancreas	Pancrea
21	chr2:55408800-55423600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:55409000-55423000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:55409200-55425800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:55410000-55424000	Weak transcription	Fetal Thymus	thymus
25	chr2:55410600-55422800	Weak transcription	HepG2	liver
26	chr2:55411200-55427000	Weak transcription	Primary B cells from cord blood	blood
27	chr2:55412200-55423000	Weak transcription	Dnd41	blood
28	chr2:55412600-55423000	Weak transcription	Thymus	Thymus
29	chr2:55412800-55422000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:55412800-55428200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:55413000-55427000	Weak transcription	Brain Angular Gyrus	brain
32	chr2:55413600-55427000	Weak transcription	Fetal Lung	lung
33	chr2:55414600-55427000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:55414800-55423200	Weak transcription	Spleen	Spleen
35	chr2:55415400-55450000	Weak transcription	GM12878-XiMat	blood
36	chr2:55415600-55423000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:55416000-55426800	Weak transcription	Fetal Kidney	kidney
38	chr2:55416000-55428400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr2:55416200-55421000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:55416200-55428800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr2:55416800-55423000	Weak transcription	Esophagus	oesophagus
42	chr2:55416800-55450000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:55417200-55422800	Weak transcription	Primary T cells from cord blood	blood
44	chr2:55417400-55423600	Weak transcription	Brain Germinal Matrix	brain
45	chr2:55417400-55450200	Weak transcription	Placenta	Placenta
46	chr2:55417800-55439200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:55417800-55450000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:55418000-55423200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr2:55418400-55420400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:55418400-55433600	Weak transcription	Brain Anterior Caudate	brain

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