Variant report

Variant	rs35662893
Chromosome Location	chr2:55418560-55418561
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	chr2:55418148..55421092-chr2:55618955..55620570,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1133183	0.92[AFR][1000 genomes]
rs17046786	1.00[AFR][1000 genomes]
rs59727596	1.00[AFR][1000 genomes]
rs60218056	1.00[AFR][1000 genomes]
rs6744208	0.91[AFR][1000 genomes]
rs72914588	0.91[AFR][1000 genomes]
rs72914589	0.84[AFR][1000 genomes]
rs72914598	0.84[AFR][1000 genomes]
rs72916724	0.92[AFR][1000 genomes]
rs72916760	0.92[AFR][1000 genomes]
rs72916779	0.85[AFR][1000 genomes]
rs72916789	0.85[AFR][1000 genomes]
rs72918903	1.00[AFR][1000 genomes]
rs72918908	1.00[AFR][1000 genomes]
rs72918925	1.00[AFR][1000 genomes]
rs72918936	1.00[AFR][1000 genomes]
rs72918947	1.00[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:65 , 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	chr2:55394000-55419000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:55395600-55422800	Weak transcription	Ovary	ovary
4	chr2:55395600-55427000	Weak transcription	Left Ventricle	heart
5	chr2:55395800-55427000	Weak transcription	Aorta	Aorta
6	chr2:55397200-55450000	Weak transcription	NH-A	brain
7	chr2:55397400-55422400	Weak transcription	HSMMtube	muscle
8	chr2:55397400-55423000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:55399600-55419000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:55399600-55423000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:55401600-55419000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:55402600-55422000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:55402600-55423200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:55402800-55450000	Weak transcription	NHDF-Ad	bronchial
15	chr2:55403200-55423800	Weak transcription	Osteobl	bone
16	chr2:55403200-55426800	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:55403200-55431800	Weak transcription	Fetal Brain Male	brain
18	chr2:55403400-55418800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:55403400-55423000	Weak transcription	NHEK	skin
20	chr2:55403600-55420600	Weak transcription	HSMM	muscle
21	chr2:55404200-55423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:55405400-55423000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:55406800-55423000	Weak transcription	Lung	lung
24	chr2:55408600-55423000	Weak transcription	Pancreas	Pancrea
25	chr2:55408800-55423600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:55409000-55423000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:55409200-55425800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr2:55410000-55424000	Weak transcription	Fetal Thymus	thymus
29	chr2:55410600-55422800	Weak transcription	HepG2	liver
30	chr2:55411200-55427000	Weak transcription	Primary B cells from cord blood	blood
31	chr2:55412200-55423000	Weak transcription	Dnd41	blood
32	chr2:55412600-55423000	Weak transcription	Thymus	Thymus
33	chr2:55412800-55422000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:55412800-55428200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:55413000-55427000	Weak transcription	Brain Angular Gyrus	brain
36	chr2:55413600-55427000	Weak transcription	Fetal Lung	lung
37	chr2:55414600-55427000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:55414800-55423200	Weak transcription	Spleen	Spleen
39	chr2:55415400-55450000	Weak transcription	GM12878-XiMat	blood
40	chr2:55415600-55423000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:55416000-55426800	Weak transcription	Fetal Kidney	kidney
42	chr2:55416000-55428400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr2:55416200-55421000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:55416200-55428800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr2:55416600-55418800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:55416800-55423000	Weak transcription	Esophagus	oesophagus
47	chr2:55416800-55450000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr2:55417200-55422800	Weak transcription	Primary T cells from cord blood	blood
49	chr2:55417400-55419600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:55417400-55423600	Weak transcription	Brain Germinal Matrix	brain

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