Variant report

Variant	rs2048874
Chromosome Location	chr2:113523967-113523968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113520342..113522645-chr2:113523345..113525972,2	K562	blood:

Variant related genes	Relation type
ENSG00000169607	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10187863	1.00[YRI][hapmap]
rs10209160	0.89[LWK][hapmap];0.80[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs10210810	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11687733	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12711742	0.81[EUR][1000 genomes]
rs12989407	1.00[ASN][1000 genomes]
rs17042344	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs17597976	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35938455	1.00[ASN][1000 genomes]
rs41294736	1.00[ASN][1000 genomes]
rs4260249	1.00[LWK][hapmap];0.80[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs62158651	1.00[ASN][1000 genomes]
rs6542088	1.00[LWK][hapmap];0.80[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs6542089	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs6542097	0.91[CEU][hapmap];0.84[GIH][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs6731822	1.00[LWK][hapmap];0.80[MKK][hapmap];1.00[YRI][hapmap]
rs7368977	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567467	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7599171	0.82[AMR][1000 genomes];0.85[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	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2048874	ACOXL	cis	parietal	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113522800-113541600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:113523000-113525200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:113523000-113525200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:113523000-113525400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:113523000-113525400	Weak transcription	Adipose Nuclei	Adipose
6	chr2:113523000-113525400	Weak transcription	Psoas Muscle	Psoas
7	chr2:113523000-113525400	Weak transcription	Right Atrium	heart
8	chr2:113523000-113529400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:113523200-113525200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr2:113523200-113525200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:113523200-113525200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:113523200-113525200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr2:113523200-113525400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:113523200-113525400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:113523200-113525400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:113523200-113525400	Weak transcription	Primary B cells from cord blood	blood
17	chr2:113523200-113525400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr2:113523200-113525400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr2:113523200-113525400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:113523200-113525400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:113523200-113525400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:113523200-113525400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr2:113523200-113525400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:113523200-113525400	Weak transcription	Liver	Liver
25	chr2:113523200-113525400	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:113523200-113525400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr2:113523200-113525400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:113523200-113525400	Weak transcription	Fetal Intestine Small	intestine
29	chr2:113523200-113525400	Weak transcription	Ovary	ovary
30	chr2:113523200-113525400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr2:113523200-113525400	Weak transcription	Spleen	Spleen
32	chr2:113523200-113525400	Weak transcription	A549	lung
33	chr2:113523200-113525400	Weak transcription	HUVEC	blood vessel
34	chr2:113523200-113525400	Weak transcription	NHLF	lung
35	chr2:113523200-113525600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:113523200-113525600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:113523200-113525600	Weak transcription	Brain Anterior Caudate	brain
38	chr2:113523200-113525600	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:113523200-113525600	Weak transcription	NHEK	skin
40	chr2:113523200-113526000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:113523200-113526000	Weak transcription	Brain Substantia Nigra	brain
42	chr2:113523400-113525200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:113523400-113525200	Weak transcription	Dnd41	blood
44	chr2:113523400-113525200	Weak transcription	GM12878-XiMat	blood
45	chr2:113523400-113525400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:113523400-113525400	Weak transcription	NHDF-Ad	bronchial
47	chr2:113523400-113525400	Weak transcription	Osteobl	bone
48	chr2:113523400-113525600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:113523400-113529800	Weak transcription	K562	blood
50	chr2:113523400-113531400	Weak transcription	Fetal Heart	heart

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