Variant report

Variant	rs17023571
Chromosome Location	chr2:100759864-100759865
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:100759845-100759895	BE2_C	brain:	n/a
2	chr2:100759845-100759895	HL-60	blood:	n/a
3	chr2:100759845-100759895	ECC-1	luminal epithelium:	n/a
4	chr2:100759845-100759895	AG04450	lung:	fetal
5	chr2:100759845-100759895	HRPEpiC	eye:	n/a
6	chr2:100759845-100759895	GM19239	blood:	n/a
7	chr2:100759845-100759895	HRE	kidney:	n/a
8	chr2:100759845-100759895	HEK293	kidney:	embryo
9	chr2:100759845-100759895	AoSMC	blood vessel:	n/a
10	chr2:100759845-100759895	PANC-1	pancreas:	n/a
11	chr2:100759845-100759895	Caco-2	colon:	n/a
12	chr2:100759845-100759895	Hepatocyte	liver:	n/a
13	chr2:100759845-100759895	HUVEC	blood vessel:	n/a
14	chr2:100759845-100759895	HepG2	liver:	n/a
15	chr2:100759845-100759895	HCF	heart:	n/a
16	chr2:100759845-100759895	BJ	skin:	n/a
17	chr2:100759845-100759895	NHDF-neo	bronchial:	n/a
18	chr2:100759845-100759895	HMEC	breast:	n/a
19	chr2:100759845-100759895	GM12892	blood:	n/a
20	chr2:100759845-100759895	HCM	heart:	n/a
21	chr2:100759845-100759895	NB4	blood:	n/a
22	chr2:100759845-100759895	LNCaP	prostate:	n/a
23	chr2:100759845-100759895	HCT-116	colon:	n/a
24	chr2:100759845-100759895	H1-hESC	embryonic stem cell:	embryo
25	chr2:100759845-100759895	HEEpiC	esophagus:	n/a
26	chr2:100759845-100759895	RPTEC	kidney:	n/a
27	chr2:100759845-100759895	SKMC	muscle:	n/a
28	chr2:100759845-100759895	NHBE	bronchial:	n/a
29	chr2:100759845-100759895	MCF10A-Er-Src	breast:	n/a
30	chr2:100759845-100759895	PrEC	prostate:	n/a
31	chr2:100759845-100759895	T-47D	breast:	n/a
32	chr2:100759845-100759895	GM12878	blood:	n/a
33	chr2:100759845-100759895	K562	blood:	n/a
34	chr2:100759845-100759895	HIPEpiC	eye:	n/a
35	chr2:100759845-100759895	GM06990	blood:	n/a
36	chr2:100759845-100759895	AG09319	gingival:	n/a
37	chr2:100759845-100759895	HCPEpiC	choroid plexus:	n/a
38	chr2:100759845-100759895	ovcar-3	ovarian:	n/a
39	chr2:100759845-100759895	SAEC	small airway:	n/a
40	chr2:100759845-100759895	A549	lung:	n/a
41	chr2:100759845-100759895	Jurkat	blood:	n/a
42	chr2:100759845-100759895	NH-A	brain:	n/a
43	chr2:100759845-100759895	SK-N-SH_RA	brain:	n/a
44	chr2:100759845-100759895	HRCEpiC	kidney:	n/a
45	chr2:100759845-100759895	Hela-S3	cervix:	n/a
46	chr2:100759845-100759895	SK-N-SH	brain:	n/a
47	chr2:100759845-100759895	MCF-7	breast:	n/a
48	chr2:100759845-100759895	SK-N-MC	brain:	n/a
49	chr2:100759845-100759895	HPAEpiC	pulmonary alveolar:	n/a
50	chr2:100759845-100759895	NT2-D1	testis:	n/a

No data

Variant related genes	Relation type
AFF3	CpG island

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10199628	1.00[ASN][1000 genomes]
rs17023512	1.00[ASN][1000 genomes]
rs17023563	0.82[ASW][hapmap];1.00[CEU][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17023572	0.95[MKK][hapmap];0.81[AFR][1000 genomes]
rs17023655	1.00[ASN][1000 genomes]
rs56993260	1.00[ASN][1000 genomes]
rs62148113	1.00[ASN][1000 genomes]
rs62148114	1.00[ASN][1000 genomes]
rs62148119	1.00[ASN][1000 genomes]
rs62149354	1.00[ASN][1000 genomes]
rs62150260	1.00[ASN][1000 genomes]
rs62150261	1.00[ASN][1000 genomes]
rs62150270	1.00[ASN][1000 genomes]
rs62150271	1.00[ASN][1000 genomes]
rs62150274	1.00[ASN][1000 genomes]
rs62150289	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6732674	0.81[AFR][1000 genomes]
rs6743817	1.00[ASN][1000 genomes]
rs6745099	1.00[ASN][1000 genomes]
rs6747250	0.81[AFR][1000 genomes]
rs6748652	1.00[ASN][1000 genomes]
rs72819176	1.00[ASN][1000 genomes]
rs72819179	1.00[ASN][1000 genomes]
rs7601715	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	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv582530	chr2:100739970-100774287	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv527481	chr2:100753490-100763006	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100746200-100764800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:100758200-100761600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:100758800-100765600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:100759000-100763000	Weak transcription	Adipose Nuclei	Adipose
5	chr2:100759200-100760400	Enhancers	Fetal Thymus	thymus
6	chr2:100759200-100760600	Enhancers	Primary hematopoietic stem cells	blood
7	chr2:100759200-100760800	ZNF genes & repeats	GM12878-XiMat	blood
8	chr2:100759200-100761400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:100759200-100763400	Enhancers	Primary B cells from peripheral blood	blood
10	chr2:100759400-100760000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr2:100759400-100760000	Enhancers	Thymus	Thymus
12	chr2:100759400-100760200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr2:100759600-100760000	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr2:100759600-100761400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:100759800-100760000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr2:100759800-100760000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr2:100759800-100760400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:100759800-100761000	Weak transcription	Spleen	Spleen
19	chr2:100759800-100761400	Enhancers	Dnd41	blood
20	chr2:100759800-100762000	Enhancers	Primary B cells from cord blood	blood

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