Variant report

Variant	rs59562515
Chromosome Location	chr2:98477008-98477009
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	chr2:98469026..98470967-chr2:98475070..98477948,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10432617	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10432627	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10432628	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10460480	0.83[ASN][1000 genomes]
rs12053205	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1562293	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs17033906	0.89[ASN][1000 genomes]
rs2278699	0.89[ASN][1000 genomes]
rs2289918	0.89[ASN][1000 genomes]
rs2289919	0.87[ASN][1000 genomes]
rs35321446	0.85[ASN][1000 genomes]
rs56293187	0.89[ASN][1000 genomes]
rs56948188	0.85[ASN][1000 genomes]
rs57831860	0.89[ASN][1000 genomes]
rs58019724	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58511420	0.89[ASN][1000 genomes]
rs61228852	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs62157588	0.84[ASN][1000 genomes]
rs6711959	0.89[ASN][1000 genomes]
rs72951160	0.89[ASN][1000 genomes]
rs73963109	0.89[ASN][1000 genomes]
rs746003	0.89[ASN][1000 genomes]
rs746004	0.89[ASN][1000 genomes]
rs7565744	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98409400-98484200	Weak transcription	HUVEC	blood vessel
2	chr2:98409800-98485000	Weak transcription	Hela-S3	cervix
3	chr2:98428800-98485000	Weak transcription	NHLF	lung
4	chr2:98434200-98484000	Weak transcription	NHDF-Ad	bronchial
5	chr2:98434400-98485800	Weak transcription	Lung	lung
6	chr2:98447800-98479600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:98447800-98502800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:98449600-98482000	Weak transcription	Fetal Kidney	kidney
9	chr2:98457000-98477400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:98457000-98477400	Weak transcription	Esophagus	oesophagus
11	chr2:98457000-98478000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:98457000-98485600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:98457200-98485800	Weak transcription	Brain Anterior Caudate	brain
14	chr2:98457400-98485800	Weak transcription	Aorta	Aorta
15	chr2:98457600-98477600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:98457600-98485400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:98457800-98478000	Weak transcription	Colonic Mucosa	Colon
18	chr2:98457800-98485200	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:98458200-98486000	Weak transcription	Ovary	ovary
20	chr2:98458200-98486800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:98458400-98478000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:98458600-98485600	Weak transcription	Placenta	Placenta
23	chr2:98459200-98477200	Weak transcription	Fetal Lung	lung
24	chr2:98459400-98485000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:98460000-98486000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:98461400-98477200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:98461600-98480000	Weak transcription	Brain Germinal Matrix	brain
28	chr2:98461600-98485400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:98461800-98477600	Weak transcription	Right Ventricle	heart
30	chr2:98462800-98485600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:98465000-98481400	Weak transcription	HSMMtube	muscle
32	chr2:98466600-98485600	Weak transcription	Brain Angular Gyrus	brain
33	chr2:98467000-98478000	Weak transcription	HSMM	muscle
34	chr2:98467000-98484000	Weak transcription	Psoas Muscle	Psoas
35	chr2:98467000-98484800	Weak transcription	NH-A	brain
36	chr2:98467000-98485000	Weak transcription	Osteobl	bone
37	chr2:98467000-98486800	Weak transcription	K562	blood
38	chr2:98467200-98484200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:98468400-98486400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr2:98468600-98478600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr2:98468600-98486200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr2:98469000-98479200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr2:98469000-98485000	Weak transcription	Fetal Thymus	thymus
44	chr2:98469200-98486000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:98469400-98486600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:98469600-98477600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr2:98470200-98485000	Weak transcription	A549	lung
48	chr2:98470400-98478000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr2:98470400-98478200	Weak transcription	NHEK	skin
50	chr2:98470800-98477600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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