Variant report

Variant	rs6864861
Chromosome Location	chr5:126212382-126212383
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126207189..126208908-chr5:126210133..126213667,3	K562	blood:
2	chr5:126211823..126213639-chr5:126216615..126218789,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10053382	0.81[EUR][1000 genomes]
rs10065302	0.81[EUR][1000 genomes]
rs10071669	0.85[EUR][1000 genomes]
rs1034844	0.81[EUR][1000 genomes]
rs10491284	0.81[EUR][1000 genomes]
rs10900789	0.90[EUR][1000 genomes]
rs11241912	0.92[EUR][1000 genomes]
rs11949302	0.85[EUR][1000 genomes]
rs11956061	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2240527	0.81[EUR][1000 genomes]
rs2240528	0.82[EUR][1000 genomes]
rs28528146	0.83[EUR][1000 genomes]
rs4131248	0.82[EUR][1000 genomes]
rs4836300	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4836307	0.82[EUR][1000 genomes]
rs6891329	0.81[EUR][1000 genomes]
rs6897653	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7449089	0.82[EUR][1000 genomes]
rs7716410	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7721948	0.81[EUR][1000 genomes]
rs7733551	0.85[EUR][1000 genomes]
rs9327425	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6864861	MARCH3	cis	Muscle Skeletal	GTEx
rs6864861	C5orf63	cis	Artery Aorta	GTEx
rs6864861	C5orf63	cis	Artery Tibial	GTEx
rs6864861	C5orf63	cis	Nerve Tibial	GTEx
rs6864861	C5orf63	cis	Esophagus Muscularis	GTEx

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126201800-126253400	Weak transcription	A549	lung
2	chr5:126205000-126212800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr5:126205000-126214000	Weak transcription	Pancreas	Pancrea
4	chr5:126205200-126214400	Weak transcription	Psoas Muscle	Psoas
5	chr5:126205200-126216200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:126205200-126219200	Weak transcription	Osteobl	bone
7	chr5:126205200-126245600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr5:126205400-126212600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr5:126205400-126212600	Weak transcription	HUVEC	blood vessel
10	chr5:126205400-126214000	Weak transcription	Adipose Nuclei	Adipose
11	chr5:126205400-126214200	Enhancers	Fetal Brain Male	brain
12	chr5:126205400-126215000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr5:126205400-126217200	Weak transcription	Brain Anterior Caudate	brain
14	chr5:126205400-126219200	Weak transcription	Brain Substantia Nigra	brain
15	chr5:126205400-126219600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:126205400-126220200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:126205400-126220800	Weak transcription	Thymus	Thymus
18	chr5:126205400-126221400	Weak transcription	Fetal Thymus	thymus
19	chr5:126205400-126245600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr5:126205600-126215400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:126205600-126220200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:126205600-126223400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr5:126205600-126238200	Weak transcription	Primary T cells from cord blood	blood
24	chr5:126206400-126220400	Weak transcription	Lung	lung
25	chr5:126206800-126214600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr5:126206800-126220000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:126207200-126212800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr5:126207600-126221600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr5:126208000-126214600	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr5:126208400-126212800	Weak transcription	Ovary	ovary
31	chr5:126208800-126213800	Weak transcription	Right Ventricle	heart
32	chr5:126209000-126219600	Weak transcription	HSMMtube	muscle
33	chr5:126209200-126214400	Strong transcription	Primary B cells from cord blood	blood
34	chr5:126209400-126213400	Weak transcription	Left Ventricle	heart
35	chr5:126210400-126213800	Enhancers	Placenta	Placenta
36	chr5:126210400-126214200	Strong transcription	HSMM	muscle
37	chr5:126210400-126215000	Enhancers	Fetal Heart	heart
38	chr5:126210600-126212400	Genic enhancers	K562	blood
39	chr5:126210600-126213800	Enhancers	Fetal Kidney	kidney
40	chr5:126210600-126214600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr5:126210600-126223400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr5:126211000-126212600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr5:126211200-126212800	Weak transcription	Spleen	Spleen
44	chr5:126211200-126213800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr5:126211200-126219600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:126211200-126221800	Weak transcription	Fetal Intestine Small	intestine
47	chr5:126211200-126231600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:126211400-126212800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:126211400-126212800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:126211400-126212800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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