Variant report

Variant	rs68117986
Chromosome Location	chr2:64239566-64239567
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64238078..64240765-chr2:64241757..64244633,2	K562	blood:
2	chr2:64237815..64241189-chr2:64245046..64247385,4	K562	blood:
3	chr2:64237815..64239979-chr2:64245041..64246546,2	K562	blood:
4	chr2:64232589..64235192-chr2:64239355..64241006,2	MCF-7	breast:
5	chr2:64238714..64243533-chr2:64243978..64248852,9	MCF-7	breast:
6	chr2:64236322..64240765-chr2:64241571..64244633,4	K562	blood:

Variant related genes	Relation type
ENSG00000143952	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10183479	0.90[ASN][1000 genomes]
rs11558741	0.92[ASN][1000 genomes]
rs11674020	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11676710	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11682249	0.81[AFR][1000 genomes]
rs11683408	1.00[ASN][1000 genomes]
rs11691987	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11693906	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12713498	0.92[ASN][1000 genomes]
rs12996866	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13018690	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13431781	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1440002	0.90[ASN][1000 genomes]
rs17562177	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17562423	0.98[ASN][1000 genomes]
rs193031	0.87[ASN][1000 genomes]
rs2302808	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2439183	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2969395	0.96[ASN][1000 genomes]
rs329478	0.96[ASN][1000 genomes]
rs329488	0.87[ASN][1000 genomes]
rs34122334	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34765999	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34777730	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35002211	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35336851	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35480874	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35697586	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs35960986	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36033991	0.90[ASN][1000 genomes]
rs36123537	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4233930	0.83[ASN][1000 genomes]
rs4538187	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4671071	0.87[ASN][1000 genomes]
rs56904032	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546029	0.90[ASN][1000 genomes]
rs6546030	0.90[ASN][1000 genomes]
rs6546032	0.92[ASN][1000 genomes]
rs6546033	0.90[ASN][1000 genomes]
rs6546035	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66980330	0.92[ASN][1000 genomes]
rs6715992	0.92[ASN][1000 genomes]
rs67308158	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6731508	0.92[ASN][1000 genomes]
rs6732746	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6755646	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67615384	0.88[ASN][1000 genomes]
rs67765474	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72808243	0.88[ASN][1000 genomes]
rs72893103	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74181291	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7590399	0.92[ASN][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: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	chr2:64209400-64244800	Weak transcription	HSMM	muscle
5	chr2:64210200-64243000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:64213800-64244600	Weak transcription	HUVEC	blood vessel
7	chr2:64222400-64242600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:64222400-64243000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:64225400-64242200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:64225800-64242600	Weak transcription	Fetal Kidney	kidney
11	chr2:64226000-64243000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:64226000-64245000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr2:64226200-64245000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:64226200-64245000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:64226600-64242400	Weak transcription	Primary B cells from cord blood	blood
16	chr2:64226600-64242400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:64226800-64242600	Weak transcription	Small Intestine	intestine
18	chr2:64227000-64244600	Weak transcription	Fetal Brain Female	brain
19	chr2:64227200-64242000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:64227200-64245400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:64228200-64239800	Weak transcription	Adipose Nuclei	Adipose
22	chr2:64228200-64243800	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:64228600-64242600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:64228600-64243800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:64228800-64242600	Weak transcription	Dnd41	blood
26	chr2:64229000-64242000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:64229000-64244800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:64229000-64245000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:64229200-64242400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:64229200-64242600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:64229200-64243000	Weak transcription	Thymus	Thymus
32	chr2:64229200-64243800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:64229200-64244800	Weak transcription	Fetal Intestine Small	intestine
34	chr2:64229400-64242400	Weak transcription	Primary T cells from cord blood	blood
35	chr2:64229400-64242600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:64229400-64243000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:64229400-64243000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:64229400-64243000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:64229400-64243000	Weak transcription	Ovary	ovary
40	chr2:64229400-64243000	Weak transcription	GM12878-XiMat	blood
41	chr2:64229400-64243000	Weak transcription	HMEC	breast
42	chr2:64229400-64243800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:64229400-64243800	Weak transcription	Spleen	Spleen
44	chr2:64229400-64244000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:64229400-64244400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:64229400-64244800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:64229400-64244800	Weak transcription	Fetal Stomach	stomach
48	chr2:64229400-64244800	Weak transcription	Right Ventricle	heart
49	chr2:64229400-64245400	Weak transcription	Pancreas	Pancrea
50	chr2:64229600-64243000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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