Variant report

Variant	rs2344913
Chromosome Location	chr2:233914569-233914570
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	chr2:233912317..233915187-chr2:233920888..233923160,2	K562	blood:
2	chr2:233914078..233917204-chr2:233917220..233919359,3	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10211511	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694923	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13017176	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13391656	0.82[ASN][1000 genomes]
rs13392069	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401226	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13408428	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13408980	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28574597	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34177313	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34383725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34513284	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34779565	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35213087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35237010	0.82[ASN][1000 genomes]
rs35487055	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073603	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4405750	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4439944	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56279626	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62194574	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759511	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917223	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917354	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917366	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917368	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv876012	chr2:233899377-233996429	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233909400-233915800	Weak transcription	Right Atrium	heart
2	chr2:233912400-233915000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr2:233912800-233914600	Enhancers	Fetal Muscle Leg	muscle
4	chr2:233913400-233916000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:233913600-233914600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:233913600-233914800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr2:233913600-233914800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr2:233913600-233914800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:233913600-233915000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:233913800-233914600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:233913800-233914600	Enhancers	Duodenum Mucosa	Duodenum
12	chr2:233913800-233914600	Enhancers	HSMM	muscle
13	chr2:233913800-233915000	Enhancers	NHEK	skin
14	chr2:233913800-233916000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr2:233913800-233916000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:233914000-233914600	Enhancers	Fetal Thymus	thymus
17	chr2:233914000-233915600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr2:233914000-233915600	Weak transcription	Esophagus	oesophagus
19	chr2:233914000-233916000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:233914000-233916200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:233914200-233914600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:233914200-233915600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:233914200-233916000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr2:233914200-233918600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:233914200-233919200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:233914400-233914800	Weak transcription	Brain Anterior Caudate	brain
27	chr2:233914400-233915600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr2:233914400-233916000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:233914400-233916000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:233914400-233918600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:233914400-233918800	Weak transcription	HMEC	breast
32	chr2:233914400-233926600	Weak transcription	HSMMtube	muscle

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