Variant report

Variant	rs1520200
Chromosome Location	chr3:191045874-191045875
allele	C/G
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	GATA1	chr3:191045652-191047550	PBDE	blood:	n/a	chr3:191045713-191045730
2	GATA2	chr3:191045388-191045911	HUVEC	blood vessel:	n/a	chr3:191045713-191045730

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:191045177..191046733-chr3:191083021..191085089,2	K562	blood:

Variant related genes	Relation type
CCDC50	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs13061649	0.81[CHB][hapmap]
rs1715641	0.83[CEU][hapmap]
rs1850961	0.86[ASN][1000 genomes]
rs2572064	0.84[CHB][hapmap]
rs293809	0.86[CHB][hapmap]
rs293810	0.81[CHB][hapmap]
rs293811	0.86[CHB][hapmap]
rs293813	0.81[CHB][hapmap]
rs293816	0.84[ASN][1000 genomes]
rs293817	0.84[ASN][1000 genomes]
rs293839	0.81[CHB][hapmap]
rs293840	0.81[CHB][hapmap]
rs364519	0.86[CHB][hapmap]
rs389765	0.86[CHB][hapmap]
rs392311	0.81[CHB][hapmap]
rs403078	0.85[CHB][hapmap]
rs420266	0.81[CHB][hapmap]
rs429374	0.86[CHB][hapmap]
rs429521	0.81[CHB][hapmap]
rs436393	0.80[CHB][hapmap]
rs436428	0.81[CHB][hapmap]
rs438589	0.81[CHB][hapmap]
rs447931	0.81[CHB][hapmap]
rs568702	0.81[CHB][hapmap]
rs695910	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428100	chr3:190793797-191092633	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv878101	chr3:190891939-191059322	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv998208	chr3:191021434-191175350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv1851611	chr3:191028147-191073560	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv4169	chr3:191036298-191063465	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191043600-191046200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:191044400-191046000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:191044600-191046400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:191045200-191046000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:191045200-191046600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:191045400-191046400	Enhancers	Primary hematopoietic stem cells	blood
7	chr3:191045400-191046400	Enhancers	Fetal Brain Male	brain
8	chr3:191045400-191046400	Enhancers	NHLF	lung
9	chr3:191045400-191046600	Enhancers	HUVEC	blood vessel
10	chr3:191045600-191046000	Weak transcription	Spleen	Spleen
11	chr3:191045600-191046200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:191045600-191046200	Weak transcription	Ovary	ovary
13	chr3:191045600-191046600	Enhancers	Primary B cells from peripheral blood	blood
14	chr3:191045800-191046200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
15	chr3:191045800-191046200	Enhancers	Fetal Brain Female	brain
16	chr3:191045800-191046400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:191045800-191046600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr3:191045800-191046600	Flanking Active TSS	HepG2	liver

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