Variant report

Variant	rs62156523
Chromosome Location	chr2:98583575-98583576
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	chr2:98582131..98586071-chr2:98586872..98589219,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs55853292	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs58690282	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59049638	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59444417	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs59635122	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59752876	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61363543	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62154549	0.80[EUR][1000 genomes]
rs62154555	0.80[AFR][1000 genomes]
rs62154556	0.80[AFR][1000 genomes]
rs62154558	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs62156480	0.83[EUR][1000 genomes]
rs62156482	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62156488	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs62156507	0.87[EUR][1000 genomes]
rs62156508	0.90[EUR][1000 genomes]
rs62156509	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62156514	0.86[EUR][1000 genomes]
rs62156519	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62156522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62156527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156530	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62158265	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62158266	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62158268	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62158269	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62158270	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62158272	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73960433	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73960434	0.89[AFR][1000 genomes]
rs73960435	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7575922	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs7600204	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98563600-98589200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:98567600-98586600	Weak transcription	Fetal Stomach	stomach
3	chr2:98568200-98599200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:98568400-98586600	Weak transcription	Aorta	Aorta
5	chr2:98568400-98592000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:98571000-98586600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:98574400-98586200	Weak transcription	NH-A	brain
8	chr2:98574800-98585200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:98574800-98586200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:98575000-98585000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:98575000-98586800	Weak transcription	Brain Angular Gyrus	brain
12	chr2:98575000-98589000	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:98575200-98584400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:98575200-98592600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:98575400-98585000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:98575400-98595000	Weak transcription	HSMM	muscle
17	chr2:98575600-98586600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:98575600-98586600	Weak transcription	Lung	lung
19	chr2:98575800-98587600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:98576000-98584400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:98578200-98584200	Weak transcription	Brain Substantia Nigra	brain
22	chr2:98578400-98584200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:98578400-98586600	Weak transcription	Brain Anterior Caudate	brain
24	chr2:98578400-98587200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:98579600-98584200	Weak transcription	Primary T cells from cord blood	blood
26	chr2:98579600-98584200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr2:98580000-98589800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:98580200-98583600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:98580200-98584400	Weak transcription	Esophagus	oesophagus
30	chr2:98580600-98583800	Enhancers	Fetal Intestine Small	intestine
31	chr2:98581000-98585800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:98581000-98589600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:98581200-98586000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr2:98581200-98586400	Weak transcription	Osteobl	bone
35	chr2:98581400-98583600	Weak transcription	Fetal Kidney	kidney
36	chr2:98581400-98584200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr2:98581400-98586000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:98581400-98586200	Weak transcription	Fetal Heart	heart
39	chr2:98581600-98584400	Weak transcription	NHLF	lung
40	chr2:98582000-98584600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr2:98582200-98584000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr2:98582200-98586600	Weak transcription	Colonic Mucosa	Colon
43	chr2:98582200-98587200	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr2:98582200-98587400	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr2:98582400-98588400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr2:98582600-98583600	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr2:98582600-98583600	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr2:98582600-98583800	Enhancers	Right Atrium	heart
49	chr2:98582600-98584400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:98582600-98584600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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