Variant report

Variant	rs185670750
Chromosome Location	chr2:177628763-177628764
allele	A/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	HDAC2	chr2:177628677-177629197	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr2:177628630-177629258	H1-hESC	embryonic stem cell:	n/a	n/a
3	NFYB	chr2:177628454-177628783	K562	blood:	n/a	chr2:177628644-177628654 chr2:177628641-177628656 chr2:177628641-177628656 chr2:177628643-177628656 chr2:177628642-177628656
4	TCF12	chr2:177628682-177629304	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr2:177628703-177629230	H1-hESC	embryonic stem cell:	n/a	n/a
6	SP1	chr2:177628672-177629216	H1-hESC	embryonic stem cell:	n/a	chr2:177629069-177629083
7	TBP	chr2:177628681-177629065	H1-hESC	embryonic stem cell:	n/a	n/a
8	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
9	SIN3A	chr2:177628540-177629179	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr2:177628707-177629176	GM12878	blood:	n/a	chr2:177628977-177628987 chr2:177628972-177628983
11	CTBP2	chr2:177628692-177629231	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr2:177628600-177629265	H1-hESC	embryonic stem cell:	n/a	chr2:177628976-177628985 chr2:177628975-177628984
13	MAFK	chr2:177628531-177629445	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr2:177628663-177629142	H1-hESC	embryonic stem cell:	n/a	chr2:177628973-177628987
15	MAX	chr2:177628698-177629221	H1-hESC	embryonic stem cell:	n/a	chr2:177628976-177628985 chr2:177628975-177628984
16	JUND	chr2:177628714-177629203	H1-hESC	embryonic stem cell:	n/a	chr2:177628976-177628984 chr2:177628975-177628985 chr2:177628975-177628984 chr2:177628979-177628991 chr2:177628976-177628983
17	NFYB	chr2:177628454-177628859	GM12878	blood:	n/a	chr2:177628644-177628654 chr2:177628641-177628656 chr2:177628641-177628656 chr2:177628643-177628656 chr2:177628642-177628656
18	POLR2A	chr2:177628702-177629055	H1-hESC	embryonic stem cell:	n/a	n/a
19	TEAD4	chr2:177628667-177629185	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr2:177628674-177629170	H1-hESC	embryonic stem cell:	n/a	n/a
21	TEAD4	chr2:177628698-177629234	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr2:177628662-177629086	H1-hESC	embryonic stem cell:	n/a	n/a
23	EP300	chr2:177628726-177629274	H1-hESC	embryonic stem cell:	n/a	chr2:177628976-177628985 chr2:177628975-177628984
24	POU2F2	chr2:177628693-177629196	GM12891	blood:	n/a	chr2:177629012-177629020 chr2:177629011-177629020 chr2:177629010-177629020 chr2:177629009-177629021 chr2:177629007-177629025 chr2:177629011-177629022 chr2:177629009-177629023 chr2:177629010-177629020 chr2:177629006-177629027 chr2:177629012-177629019 chr2:177629008-177629023 chr2:177629011-177629021
25	POU5F1	chr2:177628623-177629213	H1-hESC	embryonic stem cell:	n/a	chr2:177629012-177629020 chr2:177629012-177629026 chr2:177629012-177629026
26	FOS	chr2:177628695-177628956	MCF10A-Er-Src	breast:	n/a	n/a
27	MAX	chr2:177628659-177629146	H1-hESC	embryonic stem cell:	n/a	chr2:177628976-177628985 chr2:177628975-177628984
28	SP1	chr2:177628668-177629196	H1-hESC	embryonic stem cell:	n/a	chr2:177629069-177629083
29	TCF12	chr2:177628741-177629177	H1-hESC	embryonic stem cell:	n/a	n/a
30	TCF3	chr2:177628624-177629240	GM12878	blood:	n/a	n/a
31	CTCF	chr2:177628720-177628870	GM12864	blood:	n/a	n/a
32	POU2F2	chr2:177628717-177629207	GM12878	blood:	n/a	chr2:177629012-177629020 chr2:177629011-177629020 chr2:177629010-177629020 chr2:177629009-177629021 chr2:177629007-177629025 chr2:177629011-177629022 chr2:177629009-177629023 chr2:177629010-177629020 chr2:177629006-177629027 chr2:177629012-177629019 chr2:177629008-177629023 chr2:177629011-177629021
33	CREB1	chr2:177628563-177629226	H1-hESC	embryonic stem cell:	n/a	n/a
34	IRF4	chr2:177628744-177629135	GM12878	blood:	n/a	n/a
35	POU2F2	chr2:177628720-177629217	GM12891	blood:	n/a	chr2:177629012-177629020 chr2:177629011-177629020 chr2:177629010-177629020 chr2:177629009-177629021 chr2:177629007-177629025 chr2:177629011-177629022 chr2:177629009-177629023 chr2:177629010-177629020 chr2:177629006-177629027 chr2:177629012-177629019 chr2:177629008-177629023 chr2:177629011-177629021
36	POLR2A	chr2:177628688-177628974	H1-hESC	embryonic stem cell:	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: 4 )
Associated
traits (count: 0)

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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177623400-177634400	Weak transcription	Right Atrium	heart
2	chr2:177626800-177628800	Enhancers	Fetal Heart	heart
3	chr2:177627000-177629000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:177627000-177629200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:177627400-177628800	Enhancers	NHDF-Ad	bronchial
6	chr2:177627800-177628800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr2:177627800-177629600	Enhancers	Brain Germinal Matrix	brain
8	chr2:177628000-177630600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:177628200-177629200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:177628200-177629400	Enhancers	Fetal Brain Female	brain
11	chr2:177628200-177629600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr2:177628200-177629800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:177628400-177628800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr2:177628400-177628800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr2:177628400-177628800	Enhancers	Ovary	ovary
16	chr2:177628400-177629000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:177628400-177631000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr2:177628600-177628800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
19	chr2:177628600-177629000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr2:177628600-177629000	Flanking Active TSS	GM12878-XiMat	blood
21	chr2:177628600-177629200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:177628600-177629200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:177628600-177629400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr2:177628600-177631200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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