Variant report

Variant	rs61651647
Chromosome Location	chr2:64242884-64242885
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:64233493..64236244-chr2:64240747..64243613,2	K562	blood:
2	chr2:64241698..64244802-chr2:64245150..64248810,6	MCF-7	breast:
3	chr11:120515523..120518309-chr2:64241158..64243356,2	K562	blood:
4	chr2:64238078..64240765-chr2:64241757..64244633,2	K562	blood:
5	chr2:64236322..64240765-chr2:64241571..64244633,4	K562	blood:
6	chr2:64238714..64243533-chr2:64243978..64248852,9	MCF-7	breast:
7	chr2:64242543..64244844-chr2:64248879..64250453,2	K562	blood:
8	chr2:64241763..64244810-chr2:64244833..64246626,3	K562	blood:
9	chr2:64241008..64242900-chr2:64245121..64247343,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143952	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs6546047	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6705018	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6728496	0.83[AFR][1000 genomes]
rs6736162	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6736718	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6743681	0.83[AFR][1000 genomes]
rs6755620	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73935027	1.00[AMR][1000 genomes]
rs73935030	1.00[AMR][1000 genomes]
rs73935042	1.00[AMR][1000 genomes]
rs73935043	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73935045	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73935046	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73935047	1.00[AMR][1000 genomes]
rs73935054	1.00[AMR][1000 genomes]
rs7566977	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7602730	0.85[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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64185800-64245000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:64194000-64243200	Weak transcription	NHLF	lung
3	chr2:64209400-64244800	Weak transcription	HSMM	muscle
4	chr2:64210200-64243000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:64213800-64244600	Weak transcription	HUVEC	blood vessel
6	chr2:64222400-64243000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:64226000-64243000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:64226000-64245000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr2:64226200-64245000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:64226200-64245000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:64227000-64244600	Weak transcription	Fetal Brain Female	brain
12	chr2:64227200-64245400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:64228200-64243800	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:64228600-64243800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr2:64229000-64244800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:64229000-64245000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:64229200-64243000	Weak transcription	Thymus	Thymus
18	chr2:64229200-64243800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:64229200-64244800	Weak transcription	Fetal Intestine Small	intestine
20	chr2:64229400-64243000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:64229400-64243000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:64229400-64243000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:64229400-64243000	Weak transcription	Ovary	ovary
24	chr2:64229400-64243000	Weak transcription	GM12878-XiMat	blood
25	chr2:64229400-64243000	Weak transcription	HMEC	breast
26	chr2:64229400-64243800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:64229400-64243800	Weak transcription	Spleen	Spleen
28	chr2:64229400-64244000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:64229400-64244400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:64229400-64244800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:64229400-64244800	Weak transcription	Fetal Stomach	stomach
32	chr2:64229400-64244800	Weak transcription	Right Ventricle	heart
33	chr2:64229400-64245400	Weak transcription	Pancreas	Pancrea
34	chr2:64229600-64243000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:64229600-64243800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr2:64230800-64243200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:64231200-64243000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:64231600-64244600	Weak transcription	Osteobl	bone
39	chr2:64231800-64244600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:64233000-64243000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:64233200-64243000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr2:64233400-64243000	Weak transcription	A549	lung
43	chr2:64233800-64243000	Weak transcription	Stomach Mucosa	stomach
44	chr2:64236400-64244600	Weak transcription	Liver	Liver
45	chr2:64237200-64243000	Weak transcription	Left Ventricle	heart
46	chr2:64238400-64244800	Weak transcription	NH-A	brain
47	chr2:64239600-64243200	Weak transcription	NHDF-Ad	bronchial
48	chr2:64240000-64243000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr2:64240000-64244400	Weak transcription	Fetal Heart	heart
50	chr2:64240200-64243000	Weak transcription	Placenta Amnion	Placenta Amnion

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