Variant report

Variant	rs701926
Chromosome Location	chr1:211851619-211851620
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr1:211850621-211851761	GM12878	blood:	n/a	chr1:211851184-211851193 chr1:211851154-211851167

Variant related genes	Relation type
NEK2	TF binding region
ENSG00000231057	TF binding region

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

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

rs_ID	r²[population]
rs11119794	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11578614	1.00[CHB][hapmap]
rs12074002	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12561861	1.00[CHB][hapmap]
rs17017716	1.00[CHB][hapmap]
rs2184844	1.00[CHB][hapmap]
rs2794731	1.00[CHB][hapmap]
rs41275368	1.00[ASN][1000 genomes]
rs60293324	1.00[ASN][1000 genomes]
rs6659316	1.00[CHB][hapmap]
rs6661565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs697003	0.84[EUR][1000 genomes]
rs701917	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs701929	0.85[EUR][1000 genomes]
rs7511687	1.00[CHB][hapmap]
rs7516189	1.00[CHB][hapmap]
rs7526891	1.00[CHB][hapmap]
rs7527002	1.00[CHB][hapmap]
rs7539988	1.00[CHB][hapmap]
rs7554588	1.00[CHB][hapmap]

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	esv2754845	chr1:211846605-211878605	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs701926	NEK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211849400-211854000	Weak transcription	Primary T cells from cord blood	blood
2	chr1:211849400-211854000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:211849400-211854000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:211849400-211854000	Weak transcription	Brain Angular Gyrus	brain
5	chr1:211849400-211854400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:211849400-211854400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:211849600-211852200	Enhancers	Primary B cells from cord blood	blood
8	chr1:211849600-211852200	Enhancers	GM12878-XiMat	blood
9	chr1:211849600-211853400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:211849600-211853800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr1:211849600-211854000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr1:211849600-211854000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:211849600-211854000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr1:211849600-211854000	Weak transcription	Brain Anterior Caudate	brain
15	chr1:211849600-211854000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:211849600-211854000	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:211849600-211854000	Weak transcription	NH-A	brain
18	chr1:211849600-211854400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr1:211849600-211854400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:211849600-211854400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:211849600-211854400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr1:211849600-211854400	Weak transcription	Fetal Lung	lung
23	chr1:211849600-211854400	Weak transcription	HMEC	breast
24	chr1:211849800-211854000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:211849800-211854000	Weak transcription	Dnd41	blood
26	chr1:211849800-211854200	Weak transcription	NHEK	skin
27	chr1:211849800-211854400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr1:211850000-211853800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:211850000-211854000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:211850000-211854000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:211850000-211854000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:211850000-211854200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:211850000-211854400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:211850000-211854400	Weak transcription	Hela-S3	cervix
35	chr1:211850000-211856600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:211850000-211857200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:211850000-211857400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:211850200-211854000	Weak transcription	A549	lung
39	chr1:211850600-211852000	Enhancers	Primary B cells from peripheral blood	blood
40	chr1:211851000-211851800	Enhancers	HepG2	liver

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