Variant report

Variant	rs6730957
Chromosome Location	chr2:172380873-172380874
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172288399..172293582-chr2:172376630..172381034,10	K562	blood:
2	chr2:172379590..172381198-chr2:172382870..172385036,2	MCF-7	breast:
3	chr2:172344598..172348821-chr2:172376554..172380965,4	K562	blood:
4	chr2:172380578..172383300-chr2:172395054..172396804,2	K562	blood:
5	chr2:172016800..172018820-chr2:172378965..172381042,2	K562	blood:
6	chr2:172288399..172297381-chr2:172370978..172381493,22	K562	blood:

Variant related genes	Relation type
ENSG00000123600	Chromatin interaction
ENSG00000228507	Chromatin interaction
ENSG00000198586	Chromatin interaction
ENSG00000115827	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13020413	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13403066	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406134	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1558938	0.90[EUR][1000 genomes]
rs34186168	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35380972	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731976	0.92[EUR][1000 genomes]
rs58126733	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734880	0.83[ASN][1000 genomes]
rs6759240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6730957	CYBRD1	cis	Artery Tibial	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172378200-172381200	Active TSS	Right Atrium	heart
2	chr2:172378400-172381000	Active TSS	Ovary	ovary
3	chr2:172378400-172381000	Flanking Active TSS	HMEC	breast
4	chr2:172378600-172381000	Active TSS	Aorta	Aorta
5	chr2:172378600-172381000	Flanking Active TSS	Liver	Liver
6	chr2:172378600-172381200	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr2:172378800-172381000	Active TSS	HSMMtube	muscle
8	chr2:172378800-172381200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
9	chr2:172378800-172381600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:172379400-172381200	Active TSS	Colonic Mucosa	Colon
11	chr2:172379600-172381200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
12	chr2:172379800-172381000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:172379800-172381200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:172380000-172381200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:172380200-172381000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
16	chr2:172380200-172381000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:172380200-172381000	Flanking Active TSS	HUVEC	blood vessel
18	chr2:172380200-172381200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:172380200-172381200	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr2:172380200-172381200	Active TSS	Brain Germinal Matrix	brain
21	chr2:172380200-172381200	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr2:172380200-172381200	Flanking Active TSS	NH-A	brain
23	chr2:172380200-172381200	Flanking Active TSS	NHEK	skin
24	chr2:172380200-172381400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:172380200-172381400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr2:172380400-172381000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:172380400-172381000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr2:172380400-172381000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
29	chr2:172380400-172381000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr2:172380400-172381000	Flanking Active TSS	A549	lung
31	chr2:172380400-172381000	Flanking Active TSS	Hela-S3	cervix
32	chr2:172380400-172381200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr2:172380400-172381200	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr2:172380400-172381200	Flanking Active TSS	GM12878-XiMat	blood
35	chr2:172380400-172381400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:172380400-172381400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr2:172380400-172381400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:172380400-172381400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr2:172380600-172381000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:172380600-172381000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:172380600-172381000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:172380600-172381000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:172380600-172381000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:172380600-172381000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:172380600-172381000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:172380600-172381000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr2:172380600-172381000	Active TSS	Fetal Brain Female	brain
48	chr2:172380600-172381000	Bivalent/Poised TSS	Fetal Kidney	kidney
49	chr2:172380600-172381000	Flanking Active TSS	Left Ventricle	heart
50	chr2:172380600-172381000	Flanking Active TSS	Stomach Smooth Muscle	stomach

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