Variant report

Variant	rs55977137
Chromosome Location	chr2:64228925-64228926
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64226896..64229641-chr2:64246459..64249027,4	K562	blood:
2	chr2:64225373..64227940-chr2:64228601..64231174,2	K562	blood:
3	chr2:64227637..64233066-chr2:64233431..64237218,6	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10496104	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11896894	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11899693	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17028239	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17028316	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17028343	0.97[AFR][1000 genomes]
rs17028348	0.93[AFR][1000 genomes]
rs17028356	0.93[AFR][1000 genomes]
rs35693031	0.85[AFR][1000 genomes]
rs36085609	0.83[AFR][1000 genomes]
rs4277507	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4470330	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56053068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56155077	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56674285	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56677212	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56978264	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57085982	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs57101313	0.95[AFR][1000 genomes]
rs57202709	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57252448	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57936760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58074696	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58198691	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58297806	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58889204	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58982089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59156176	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59335889	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs59736629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60350159	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60847776	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61383573	0.96[AFR][1000 genomes]
rs61389158	0.91[AFR][1000 genomes]
rs61486417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136393	0.81[AFR][1000 genomes]
rs62136397	0.82[AFR][1000 genomes]
rs62136398	0.82[AFR][1000 genomes]
rs62136400	0.82[AFR][1000 genomes]
rs62136402	0.82[AFR][1000 genomes]
rs62136407	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62136423	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62136425	0.82[EUR][1000 genomes]
rs62136429	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136436	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136443	1.00[ASN][1000 genomes]
rs62136446	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62136447	0.94[EUR][1000 genomes]
rs62136457	0.94[EUR][1000 genomes]
rs62136458	0.94[EUR][1000 genomes]
rs62136459	0.94[EUR][1000 genomes]
rs73935051	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002209	chr2:64160385-64238475	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2763643	chr2:64219887-64281337	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64154800-64242600	Weak transcription	Aorta	Aorta
2	chr2:64185800-64245000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:64194000-64243200	Weak transcription	NHLF	lung
4	chr2:64202800-64232400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:64209000-64229200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:64209400-64244800	Weak transcription	HSMM	muscle
7	chr2:64210200-64243000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:64213800-64244600	Weak transcription	HUVEC	blood vessel
9	chr2:64219200-64237000	Weak transcription	Placenta	Placenta
10	chr2:64219400-64238400	Weak transcription	Gastric	stomach
11	chr2:64222400-64230800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:64222400-64242600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:64222400-64243000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:64223600-64235600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:64224800-64232600	Weak transcription	A549	lung
16	chr2:64224800-64233000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr2:64225400-64242200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:64225800-64230400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:64225800-64237000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:64225800-64242600	Weak transcription	Fetal Kidney	kidney
21	chr2:64226000-64243000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:64226000-64245000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr2:64226200-64231400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr2:64226200-64245000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:64226200-64245000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:64226600-64242400	Weak transcription	Primary B cells from cord blood	blood
27	chr2:64226600-64242400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:64226800-64242600	Weak transcription	Small Intestine	intestine
29	chr2:64227000-64229400	Enhancers	Pancreas	Pancrea
30	chr2:64227000-64229400	Enhancers	Right Atrium	heart
31	chr2:64227000-64244600	Weak transcription	Fetal Brain Female	brain
32	chr2:64227200-64242000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:64227200-64245400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:64227400-64229600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr2:64227400-64235600	Weak transcription	Fetal Thymus	thymus
36	chr2:64227600-64229400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:64227600-64229400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr2:64227600-64230000	Genic enhancers	HepG2	liver
39	chr2:64227800-64229200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:64227800-64229200	Strong transcription	Fetal Intestine Small	intestine
41	chr2:64227800-64229400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:64227800-64229400	Strong transcription	Fetal Stomach	stomach
43	chr2:64227800-64229400	Enhancers	Left Ventricle	heart
44	chr2:64227800-64232600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:64228000-64229000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:64228000-64229000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:64228000-64229400	Strong transcription	Primary T cells from cord blood	blood
48	chr2:64228000-64229400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:64228000-64229400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:64228000-64229400	Enhancers	Right Ventricle	heart

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