Variant report

Variant	rs57252448
Chromosome Location	chr2:64232895-64232896
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64231679..64233311-chr2:64235934..64238452,2	K562	blood:
2	chr2:64230028..64232949-chr2:64243748..64246264,2	MCF-7	breast:
3	chr2:64231084..64233008-chr2:64234332..64235967,2	MCF-7	breast:
4	chr2:64232589..64235192-chr2:64239355..64241006,2	MCF-7	breast:
5	chr2:64232566..64234768-chr2:64244779..64246518,2	MCF-7	breast:
6	chr2:64227637..64233066-chr2:64233431..64237218,6	K562	blood:

Variant related genes	Relation type
ENSG00000143952	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs17028275	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17028316	1.00[EUR][1000 genomes]
rs2033864	0.83[AMR][1000 genomes]
rs55977137	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56053068	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56155077	1.00[EUR][1000 genomes]
rs56674285	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56677212	1.00[ASN][1000 genomes]
rs56978264	0.88[EUR][1000 genomes]
rs57202709	1.00[ASN][1000 genomes]
rs57936760	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58074696	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58198691	0.94[EUR][1000 genomes]
rs58297806	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58889204	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58982089	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59156176	0.88[EUR][1000 genomes]
rs59736629	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60044466	0.88[AFR][1000 genomes]
rs60350159	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60847776	0.88[EUR][1000 genomes]
rs61486417	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136417	0.89[AFR][1000 genomes]
rs62136425	0.82[EUR][1000 genomes]
rs62136429	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136436	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136443	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62136446	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]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:86 , 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	chr2:64209400-64244800	Weak transcription	HSMM	muscle
5	chr2:64210200-64243000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:64213800-64244600	Weak transcription	HUVEC	blood vessel
7	chr2:64219200-64237000	Weak transcription	Placenta	Placenta
8	chr2:64219400-64238400	Weak transcription	Gastric	stomach
9	chr2:64222400-64242600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:64222400-64243000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:64223600-64235600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:64224800-64233000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:64225400-64242200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr2:64225800-64237000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:64225800-64242600	Weak transcription	Fetal Kidney	kidney
16	chr2:64226000-64243000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:64226000-64245000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr2:64226200-64245000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:64226200-64245000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:64226600-64242400	Weak transcription	Primary B cells from cord blood	blood
21	chr2:64226600-64242400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:64226800-64242600	Weak transcription	Small Intestine	intestine
23	chr2:64227000-64244600	Weak transcription	Fetal Brain Female	brain
24	chr2:64227200-64242000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:64227200-64245400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:64227400-64235600	Weak transcription	Fetal Thymus	thymus
27	chr2:64228200-64239800	Weak transcription	Adipose Nuclei	Adipose
28	chr2:64228200-64243800	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:64228600-64242600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:64228600-64243800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr2:64228800-64239200	Weak transcription	Fetal Lung	lung
32	chr2:64228800-64242600	Weak transcription	Dnd41	blood
33	chr2:64229000-64242000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:64229000-64244800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:64229000-64245000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:64229200-64242400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:64229200-64242600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:64229200-64243000	Weak transcription	Thymus	Thymus
39	chr2:64229200-64243800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:64229200-64244800	Weak transcription	Fetal Intestine Small	intestine
41	chr2:64229400-64234000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:64229400-64235200	Weak transcription	Left Ventricle	heart
43	chr2:64229400-64235400	Weak transcription	Esophagus	oesophagus
44	chr2:64229400-64235600	Weak transcription	Right Atrium	heart
45	chr2:64229400-64235800	Weak transcription	Brain Anterior Caudate	brain
46	chr2:64229400-64238000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:64229400-64242400	Weak transcription	Primary T cells from cord blood	blood
48	chr2:64229400-64242600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:64229400-64243000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:64229400-64243000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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