Variant report

Variant	rs1898731
Chromosome Location	chr2:145776555-145776556
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:145775849-145776628	A549	lung:	n/a	n/a
2	GABPA	chr2:145776170-145776596	A549	lung:	n/a	n/a
3	FOXA2	chr2:145775964-145776572	A549	lung:	n/a	n/a
4	NR3C1	chr2:145776086-145776573	A549	lung:	n/a	chr2:145776341-145776350 chr2:145776342-145776351
5	NR3C1	chr2:145776091-145776558	A549	lung:	n/a	chr2:145776341-145776350 chr2:145776342-145776351
6	ZBTB33	chr2:145776124-145776558	A549	lung:	n/a	n/a
7	NR3C1	chr2:145776082-145776568	A549	lung:	n/a	chr2:145776341-145776350 chr2:145776342-145776351
8	USF1	chr2:145776184-145776576	A549	lung:	n/a	n/a
9	SP1	chr2:145775727-145776712	A549	lung:	n/a	n/a
10	MAX	chr2:145775873-145776732	A549	lung:	n/a	n/a
11	MAX	chr2:145775998-145776669	A549	lung:	n/a	n/a
12	RAD21	chr2:145775835-145776655	A549	lung:	n/a	n/a
13	BCL3	chr2:145775876-145776620	A549	lung:	n/a	n/a
14	EP300	chr2:145775818-145776761	A549	lung:	n/a	n/a
15	CEBPB	chr2:145775796-145776615	A549	lung:	n/a	n/a
16	ETS1	chr2:145776069-145776606	A549	lung:	n/a	n/a
17	EP300	chr2:145775628-145776753	A549	lung:	n/a	n/a
18	TCF12	chr2:145775557-145776757	A549	lung:	n/a	n/a
19	TCF12	chr2:145775833-145776572	A549	lung:	n/a	n/a
20	FOSL2	chr2:145776090-145776575	A549	lung:	n/a	chr2:145776342-145776350 chr2:145776345-145776353
21	FOXA2	chr2:145775771-145776699	A549	lung:	n/a	n/a
22	GATA3	chr2:145775601-145776834	A549	lung:	n/a	n/a
23	ATF3	chr2:145775756-145776640	A549	lung:	n/a	n/a
24	JUND	chr2:145775687-145776624	A549	lung:	n/a	chr2:145776342-145776350 chr2:145776345-145776353 chr2:145775841-145775851 chr2:145775841-145775851 chr2:145775841-145775851
25	REST	chr2:145775720-145776685	A549	lung:	n/a	n/a
26	SP1	chr2:145775653-145776724	A549	lung:	n/a	n/a
27	NR3C1	chr2:145776109-145776588	A549	lung:	n/a	chr2:145776341-145776350 chr2:145776342-145776351
28	GATA3	chr2:145775811-145776612	A549	lung:	n/a	n/a
29	FOSL2	chr2:145775415-145776715	A549	lung:	n/a	chr2:145776342-145776350 chr2:145776345-145776353 chr2:145775841-145775851 chr2:145775841-145775851 chr2:145775841-145775851
30	ATF3	chr2:145776008-145776571	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145774729..145777688-chr2:145783583..145786278,2	K562	blood:

Variant related genes	Relation type
TEX41	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10204459	0.84[EUR][1000 genomes]
rs12691702	0.81[ASN][1000 genomes]
rs12993495	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12996204	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1347828	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1528412	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1528413	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16855349	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881411	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2243647	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2243648	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2246114	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2246142	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2246245	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2249681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2249798	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2249819	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2250164	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2250518	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2250546	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2579024	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs718229	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[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	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv431768	chr2:145741527-145981491	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145770000-145780400	Weak transcription	Ovary	ovary
2	chr2:145770400-145778200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:145770600-145779200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:145770600-145779400	Weak transcription	Fetal Lung	lung
5	chr2:145770600-145779600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:145771200-145782600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:145773600-145779600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:145773600-145780800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:145773800-145779600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:145774600-145778200	Weak transcription	NHDF-Ad	bronchial
11	chr2:145775200-145778200	Weak transcription	Osteobl	bone
12	chr2:145775600-145778200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:145776200-145776600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:145776400-145776800	Flanking Active TSS	A549	lung
15	chr2:145776400-145779000	Weak transcription	NHLF	lung

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