Variant report

Variant	rs6750532
Chromosome Location	chr2:177628580-177628581
allele	A/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	NFYB	chr2:177628454-177628783	K562	blood:	n/a	chr2:177628644-177628654 chr2:177628641-177628656 chr2:177628641-177628656 chr2:177628643-177628656 chr2:177628642-177628656
2	JUND	chr2:177628538-177629399	H1-hESC	embryonic stem cell:	n/a	chr2:177628976-177628984 chr2:177628975-177628985 chr2:177628975-177628984 chr2:177628979-177628991 chr2:177628976-177628983
3	SIN3A	chr2:177628540-177629179	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAFK	chr2:177628531-177629445	H1-hESC	embryonic stem cell:	n/a	n/a
5	NFYB	chr2:177628454-177628859	GM12878	blood:	n/a	chr2:177628644-177628654 chr2:177628641-177628656 chr2:177628641-177628656 chr2:177628643-177628656 chr2:177628642-177628656
6	CREB1	chr2:177628563-177629226	H1-hESC	embryonic stem cell:	n/a	n/a
7	RCOR1	chr2:177628570-177628710	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:177627395..177629802-chr2:177630789..177633436,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230552	TF binding region
ENSG00000230552	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1513881	1.00[CHB][hapmap]
rs7577987	1.00[CEU][hapmap]
rs7578081	1.00[CEU][hapmap]

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	nsv527737	chr2:177538266-177692572	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv583686	chr2:177538266-177692572	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1006500	chr2:177548521-177707097	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv524841	chr2:177628258-177632714	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177622600-177628600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:177622800-177628600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:177623400-177634400	Weak transcription	Right Atrium	heart
4	chr2:177626800-177628600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:177626800-177628800	Enhancers	Fetal Heart	heart
6	chr2:177627000-177628600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr2:177627000-177628600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:177627000-177629000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:177627000-177629200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:177627400-177628800	Enhancers	NHDF-Ad	bronchial
11	chr2:177627800-177628800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr2:177627800-177629600	Enhancers	Brain Germinal Matrix	brain
13	chr2:177628000-177630600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:177628200-177629200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:177628200-177629400	Enhancers	Fetal Brain Female	brain
16	chr2:177628200-177629600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr2:177628200-177629800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:177628400-177628600	Enhancers	GM12878-XiMat	blood
19	chr2:177628400-177628800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr2:177628400-177628800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr2:177628400-177628800	Enhancers	Ovary	ovary
22	chr2:177628400-177629000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:177628400-177631000	Enhancers	H9 Cell Line	embryonic stem cell

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