Variant report

Variant	rs2167969
Chromosome Location	chr2:30773746-30773747
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30769544..30771587-chr2:30773523..30775646,2	K562	blood:
2	chr2:30674853..30676516-chr2:30772425..30775355,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10175399	0.85[EUR][1000 genomes]
rs1252624	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1252625	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1252646	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2692035	0.83[EUR][1000 genomes]
rs4952147	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6749074	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs829574	0.82[EUR][1000 genomes]
rs829575	0.87[EUR][1000 genomes]
rs829578	0.87[EUR][1000 genomes]
rs829582	0.82[EUR][1000 genomes]
rs829583	0.83[EUR][1000 genomes]
rs829618	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs829619	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs829620	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs829622	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829631	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829634	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs829641	0.87[EUR][1000 genomes]
rs829642	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs829646	0.80[EUR][1000 genomes]
rs829654	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs829655	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829659	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829661	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs829662	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs829663	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs829665	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs829669	0.89[EUR][1000 genomes]
rs829670	0.80[EUR][1000 genomes]
rs829671	0.83[EUR][1000 genomes]
rs829672	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs829673	0.82[EUR][1000 genomes]
rs829675	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs829677	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs829679	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs829680	0.82[EUR][1000 genomes]
rs844194	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs860486	0.80[EUR][1000 genomes]
rs9309680	0.93[EUR][1000 genomes];0.91[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30749000-30812600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:30757800-30809000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:30758200-30795000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
5	chr2:30758800-30784400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr2:30758800-30785000	Weak transcription	Left Ventricle	heart
7	chr2:30758800-30809600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:30759000-30785200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:30759200-30805600	Weak transcription	K562	blood
10	chr2:30759400-30785000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:30759400-30785000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:30759400-30785000	Weak transcription	Dnd41	blood
13	chr2:30759600-30786000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:30764000-30792400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:30764400-30784200	Weak transcription	Primary B cells from cord blood	blood
16	chr2:30765000-30793600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:30765600-30773800	Weak transcription	Primary T cells from cord blood	blood
18	chr2:30766800-30810200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:30768200-30773800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:30770000-30774400	Weak transcription	Fetal Lung	lung
21	chr2:30770000-30784200	Weak transcription	HepG2	liver
22	chr2:30771200-30773800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:30771400-30782600	Weak transcription	Fetal Heart	heart
24	chr2:30772400-30774000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:30773200-30774200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:30773200-30775000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:30773400-30774000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:30773400-30774000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:30773400-30792200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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