Variant report

Variant	rs4072424
Chromosome Location	chr2:55391937-55391938
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55279956..55282350-chr2:55389384..55392221,3	K562	blood:
2	chr2:55275064..55280479-chr2:55390367..55395295,9	MCF-7	breast:
3	chr2:55391168..55392772-chr2:55394267..55395800,2	MCF-7	breast:
4	chr2:55273759..55277470-chr2:55389795..55392112,3	K562	blood:
5	chr2:55274543..55277923-chr2:55387934..55394752,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10439479	1.00[ASW][hapmap]
rs1133183	0.82[YRI][hapmap]
rs3934624	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs72914589	0.85[AFR][1000 genomes]
rs72914598	0.85[AFR][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	nsv1010438	chr2:55373562-55450144	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4072424	C2orf63	cis	lymphoblastoid	seeQTL

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55383600-55395600	Enhancers	Pancreas	Pancrea
2	chr2:55384000-55392800	Weak transcription	HMEC	breast
3	chr2:55384800-55392200	Weak transcription	Right Ventricle	heart
4	chr2:55386000-55395000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:55386800-55416600	Weak transcription	Esophagus	oesophagus
6	chr2:55387400-55393800	Weak transcription	Fetal Heart	heart
7	chr2:55387400-55395600	Enhancers	Lung	lung
8	chr2:55387600-55395000	Weak transcription	Psoas Muscle	Psoas
9	chr2:55387800-55392400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr2:55388000-55395200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:55388400-55392000	Enhancers	Fetal Brain Male	brain
12	chr2:55388400-55392200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:55388600-55392000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:55388600-55392400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:55388600-55393200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:55388600-55393400	Enhancers	NH-A	brain
17	chr2:55388800-55392200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:55388800-55392400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:55388800-55395000	Weak transcription	Left Ventricle	heart
20	chr2:55389000-55394800	Enhancers	Brain Cingulate Gyrus	brain
21	chr2:55389000-55394800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr2:55389200-55393200	Enhancers	HUVEC	blood vessel
23	chr2:55389200-55394000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:55389200-55394800	Enhancers	Brain Anterior Caudate	brain
25	chr2:55389200-55397400	Enhancers	NHLF	lung
26	chr2:55389400-55394800	Enhancers	Brain Hippocampus Middle	brain
27	chr2:55389400-55395200	Weak transcription	NHEK	skin
28	chr2:55389600-55392000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr2:55389600-55392400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr2:55389800-55392000	Enhancers	Fetal Lung	lung
31	chr2:55389800-55394000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:55389800-55394600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:55389800-55395000	Weak transcription	Brain Germinal Matrix	brain
34	chr2:55389800-55396000	Enhancers	Fetal Muscle Leg	muscle
35	chr2:55390000-55393000	Enhancers	Colon Smooth Muscle	Colon
36	chr2:55390000-55393400	Enhancers	Fetal Kidney	kidney
37	chr2:55390000-55393600	Enhancers	Osteobl	bone
38	chr2:55390000-55393800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:55390000-55395600	Enhancers	Ovary	ovary
40	chr2:55390200-55392800	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr2:55390200-55393000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:55390200-55394800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:55390200-55395200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr2:55390400-55392200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:55390400-55392200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr2:55390400-55392400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr2:55390400-55392600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr2:55390400-55394000	Enhancers	Fetal Intestine Small	intestine
49	chr2:55390400-55394800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:55390400-55395000	Weak transcription	Fetal Thymus	thymus

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