Variant report

Variant	rs10084407
Chromosome Location	chr2:205318500-205318501
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:205317459..205320428-chr2:205333008..205336253,3	K562	blood:
2	chr2:205314792..205317401-chr2:205318306..205319999,2	K562	blood:
3	chr2:205317294..205319471-chr2:205340816..205343787,2	K562	blood:
4	chr2:205317299..205320276-chr2:205333008..205336367,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10177202	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11676622	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11679233	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11690703	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11691106	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12615494	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12694001	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13010387	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13413837	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13416642	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13419430	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1374710	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1374711	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34130978	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62177725	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62177726	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6712212	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67404857	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71408989	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7597728	0.89[AMR][1000 genomes];0.97[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	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv34706	chr2:205309211-205348724	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10084407	SPATS2L	cis	parietal	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205314000-205320000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:205314600-205319800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:205315600-205318800	Weak transcription	Brain Anterior Caudate	brain
4	chr2:205316400-205318600	Weak transcription	Lung	lung
5	chr2:205316600-205320200	Enhancers	Fetal Brain Male	brain
6	chr2:205316600-205320400	Enhancers	Fetal Intestine Small	intestine
7	chr2:205316800-205318600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:205316800-205319000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:205316800-205319200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:205316800-205319600	Enhancers	Fetal Kidney	kidney
11	chr2:205316800-205320200	Enhancers	Fetal Muscle Leg	muscle
12	chr2:205317200-205318600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:205317200-205318600	Weak transcription	Right Ventricle	heart
14	chr2:205317200-205319200	Enhancers	NHLF	lung
15	chr2:205317200-205319400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:205317200-205319800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:205317200-205320000	Enhancers	Fetal Brain Female	brain
18	chr2:205317200-205320000	Enhancers	K562	blood
19	chr2:205317400-205320200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:205317600-205318600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:205317600-205318600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:205317600-205318600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:205317600-205318600	Weak transcription	Ovary	ovary
24	chr2:205317600-205318600	Weak transcription	Psoas Muscle	Psoas
25	chr2:205317600-205318600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr2:205317600-205319200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr2:205317800-205318600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:205317800-205319000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:205317800-205319200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:205317800-205319200	Enhancers	HUVEC	blood vessel
31	chr2:205317800-205319200	Enhancers	NH-A	brain
32	chr2:205317800-205319200	Enhancers	NHDF-Ad	bronchial
33	chr2:205317800-205319400	Enhancers	A549	lung
34	chr2:205318000-205318800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:205318200-205319000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr2:205318200-205319200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr2:205318200-205319200	Enhancers	Left Ventricle	heart
38	chr2:205318200-205319400	Enhancers	Brain Germinal Matrix	brain
39	chr2:205318200-205319600	Enhancers	Fetal Heart	heart
40	chr2:205318200-205319800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:205318200-205320000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:205318200-205320000	Enhancers	Fetal Intestine Large	intestine
43	chr2:205318200-205320000	Enhancers	Fetal Stomach	stomach
44	chr2:205318400-205318600	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr2:205318400-205318600	Enhancers	Duodenum Mucosa	Duodenum
46	chr2:205318400-205318800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr2:205318400-205318800	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr2:205318400-205318800	Enhancers	Right Atrium	heart
49	chr2:205318400-205319000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:205318400-205319000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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