Variant report

Variant	rs59353887
Chromosome Location	chr2:98481893-98481894
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	chr2:98481137..98483396-chr2:98485163..98486842,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10192633	1.00[AMR][1000 genomes]
rs13400479	1.00[AMR][1000 genomes]
rs4069467	1.00[AMR][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:94 , 50 per page) page: 1 2

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	chr2:98447800-98502800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:98449600-98482000	Weak transcription	Fetal Kidney	kidney
8	chr2:98457000-98485600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:98457200-98485800	Weak transcription	Brain Anterior Caudate	brain
10	chr2:98457400-98485800	Weak transcription	Aorta	Aorta
11	chr2:98457600-98485400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:98457800-98485200	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:98458200-98486000	Weak transcription	Ovary	ovary
14	chr2:98458200-98486800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:98458600-98485600	Weak transcription	Placenta	Placenta
16	chr2:98459400-98485000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:98460000-98486000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:98461600-98485400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:98462800-98485600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:98466600-98485600	Weak transcription	Brain Angular Gyrus	brain
21	chr2:98467000-98484000	Weak transcription	Psoas Muscle	Psoas
22	chr2:98467000-98484800	Weak transcription	NH-A	brain
23	chr2:98467000-98485000	Weak transcription	Osteobl	bone
24	chr2:98467000-98486800	Weak transcription	K562	blood
25	chr2:98467200-98484200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:98468400-98486400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr2:98468600-98486200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:98469000-98485000	Weak transcription	Fetal Thymus	thymus
29	chr2:98469200-98486000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr2:98469400-98486600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:98470200-98485000	Weak transcription	A549	lung
32	chr2:98471400-98485000	Weak transcription	Right Atrium	heart
33	chr2:98471400-98485800	Weak transcription	Brain Substantia Nigra	brain
34	chr2:98475400-98485800	Weak transcription	Gastric	stomach
35	chr2:98475600-98485200	Weak transcription	Dnd41	blood
36	chr2:98475600-98485600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:98475800-98484000	Weak transcription	HMEC	breast
38	chr2:98475800-98484800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr2:98475800-98485000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:98475800-98485200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:98475800-98485400	Weak transcription	Colon Smooth Muscle	Colon
42	chr2:98475800-98485600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr2:98475800-98486600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr2:98476200-98486800	Weak transcription	Small Intestine	intestine
45	chr2:98476600-98486000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr2:98476800-98486800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr2:98477000-98485000	Weak transcription	Stomach Mucosa	stomach
48	chr2:98477200-98482200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
49	chr2:98477800-98484000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:98478000-98485200	Weak transcription	Spleen	Spleen

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