Variant report

Variant	rs17024557
Chromosome Location	chr2:101256275-101256276
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10496349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17024550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17024553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2946592	1.00[CHB][hapmap]
rs2971010	1.00[CHB][hapmap]
rs58227608	0.84[ASN][1000 genomes]
rs58488423	0.84[ASN][1000 genomes]
rs59699118	1.00[AMR][1000 genomes]
rs60974130	0.84[ASN][1000 genomes]
rs61211218	0.84[ASN][1000 genomes]
rs72966945	1.00[AMR][1000 genomes]
rs72966949	1.00[AMR][1000 genomes]
rs72969815	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72969818	1.00[ASN][1000 genomes]
rs72969832	1.00[AMR][1000 genomes]
rs72971703	0.84[ASN][1000 genomes]
rs72971714	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv834314	chr2:101210940-101410477	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101255000-101256400	Weak transcription	Fetal Brain Male	brain
2	chr2:101255600-101256400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:101255600-101257400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:101255800-101256400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:101255800-101256600	Bivalent Enhancer	HUVEC	blood vessel
6	chr2:101255800-101257600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:101255800-101258800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:101256000-101256600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:101256000-101256600	Enhancers	Right Atrium	heart
10	chr2:101256000-101256800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:101256000-101256800	Enhancers	Lung	lung
12	chr2:101256000-101257000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:101256000-101257000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:101256000-101257200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:101256000-101257600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:101256000-101258800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:101256000-101260800	Enhancers	Primary T cells from cord blood	blood
18	chr2:101256000-101260800	Enhancers	Primary T cells fromperipheralblood	blood
19	chr2:101256000-101262200	Enhancers	Fetal Thymus	thymus
20	chr2:101256200-101257000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr2:101256200-101257200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:101256200-101257200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:101256200-101257400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr2:101256200-101257400	Enhancers	Brain Germinal Matrix	brain
25	chr2:101256200-101257400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:101256200-101257400	Enhancers	Fetal Brain Female	brain
27	chr2:101256200-101257600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:101256200-101257600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:101256200-101257600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:101256200-101257800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:101256200-101258000	Enhancers	H1 Cell Line	embryonic stem cell

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