Variant report

Variant	rs4667680
Chromosome Location	chr2:172105063-172105064
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172103436..172106886-chr2:172113198..172116997,4	K562	blood:
2	chr2:172104124..172106886-chr2:172115183..172116997,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10211242	0.83[EUR][1000 genomes]
rs13396177	0.83[EUR][1000 genomes]
rs13401549	0.84[CEU][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs4668378	0.82[EUR][1000 genomes]
rs60142443	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6710133	0.82[EUR][1000 genomes]
rs7583440	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7605645	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9287943	0.84[CEU][hapmap];0.83[EUR][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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4667680	CDCA7	cis	parietal	SCAN
rs4667680	ABCB11	cis	parietal	SCAN
rs4667680	LRP2	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172102800-172127400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:172103000-172105400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:172103200-172120000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:172103600-172107000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr2:172103800-172106800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:172104000-172105200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:172104000-172107200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr2:172104200-172105600	Enhancers	Primary B cells from cord blood	blood
9	chr2:172104200-172105600	Enhancers	Primary B cells from peripheral blood	blood
10	chr2:172104400-172105400	Enhancers	K562	blood
11	chr2:172104400-172106400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr2:172104400-172106600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:172104600-172105200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr2:172104600-172105200	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr2:172104600-172105200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:172104600-172105200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr2:172104600-172105200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:172104600-172105200	Flanking Active TSS	GM12878-XiMat	blood
19	chr2:172104600-172105400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:172104600-172105600	Enhancers	Thymus	Thymus
21	chr2:172104600-172105600	Flanking Active TSS	Dnd41	blood
22	chr2:172104600-172105800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:172104600-172105800	Enhancers	Primary hematopoietic stem cells	blood
24	chr2:172104600-172106000	Enhancers	Fetal Thymus	thymus
25	chr2:172104800-172105200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:172104800-172105400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:172105000-172105200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:172105000-172105200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr2:172105000-172105200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr2:172105000-172105200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr2:172105000-172105200	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr2:172105000-172105600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:172105000-172106600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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