Variant report

Variant	rs6755620
Chromosome Location	chr2:64243560-64243561
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64243174..64244724-chr2:64244885..64246414,2	K562	blood:
2	chr2:64233493..64236244-chr2:64240747..64243613,2	K562	blood:
3	chr2:64241698..64244802-chr2:64245150..64248810,6	MCF-7	breast:
4	chr2:64238078..64240765-chr2:64241757..64244633,2	K562	blood:
5	chr2:64236322..64240765-chr2:64241571..64244633,4	K562	blood:
6	chr2:64242543..64244844-chr2:64248879..64250453,2	K562	blood:
7	chr2:64241763..64244810-chr2:64244833..64246626,3	K562	blood:

Variant related genes	Relation type
ENSG00000143952	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs61651647	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6546047	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6705018	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6736162	1.00[AMR][1000 genomes]
rs6736718	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6743681	0.89[AFR][1000 genomes]
rs73935027	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73935030	1.00[AMR][1000 genomes]
rs73935042	1.00[AMR][1000 genomes]
rs73935043	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73935045	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73935046	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73935047	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73935054	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7566977	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7602730	0.91[AFR][1000 genomes];1.00[AMR][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	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
3	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64185800-64245000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:64209400-64244800	Weak transcription	HSMM	muscle
3	chr2:64213800-64244600	Weak transcription	HUVEC	blood vessel
4	chr2:64226000-64245000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:64226200-64245000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:64226200-64245000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:64227000-64244600	Weak transcription	Fetal Brain Female	brain
8	chr2:64227200-64245400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:64228200-64243800	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:64228600-64243800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr2:64229000-64244800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:64229000-64245000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:64229200-64243800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:64229200-64244800	Weak transcription	Fetal Intestine Small	intestine
15	chr2:64229400-64243800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:64229400-64243800	Weak transcription	Spleen	Spleen
17	chr2:64229400-64244000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:64229400-64244400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:64229400-64244800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:64229400-64244800	Weak transcription	Fetal Stomach	stomach
21	chr2:64229400-64244800	Weak transcription	Right Ventricle	heart
22	chr2:64229400-64245400	Weak transcription	Pancreas	Pancrea
23	chr2:64229600-64243800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:64231600-64244600	Weak transcription	Osteobl	bone
25	chr2:64231800-64244600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:64236400-64244600	Weak transcription	Liver	Liver
27	chr2:64238400-64244800	Weak transcription	NH-A	brain
28	chr2:64240000-64244400	Weak transcription	Fetal Heart	heart
29	chr2:64240400-64244400	Weak transcription	Fetal Lung	lung
30	chr2:64241600-64244800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr2:64241800-64243800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:64241800-64245000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:64242200-64244800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr2:64242400-64243600	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr2:64242400-64243600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:64242400-64243600	Enhancers	NHEK	skin
37	chr2:64242400-64243800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr2:64242400-64244600	Enhancers	Adipose Nuclei	Adipose
39	chr2:64242400-64244600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:64242400-64245000	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr2:64242600-64243600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:64242600-64243600	Enhancers	K562	blood
43	chr2:64242600-64243800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:64242600-64244000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:64242600-64244400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:64242600-64244600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr2:64242600-64244600	Enhancers	Colon Smooth Muscle	Colon
48	chr2:64242600-64244600	Enhancers	Psoas Muscle	Psoas
49	chr2:64242600-64244800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr2:64242600-64244800	Enhancers	Rectal Smooth Muscle	rectum

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