Variant report

Variant	rs556423895
Chromosome Location	chr2:177629126-177629127
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	TCF12	chr2:177628824-177629204	GM12878	blood:	n/a	n/a
2	HDAC2	chr2:177628677-177629197	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr2:177628630-177629258	H1-hESC	embryonic stem cell:	n/a	n/a
4	TCF12	chr2:177628682-177629304	H1-hESC	embryonic stem cell:	n/a	n/a
5	TCF3	chr2:177628787-177629175	GM12878	blood:	n/a	n/a
6	YY1	chr2:177628703-177629230	H1-hESC	embryonic stem cell:	n/a	n/a
7	SP1	chr2:177628672-177629216	H1-hESC	embryonic stem cell:	n/a	chr2:177629069-177629083
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	RUNX3	chr2:177628790-177629194	GM12878	blood:	n/a	n/a
14	MAFK	chr2:177628531-177629445	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr2:177628663-177629142	H1-hESC	embryonic stem cell:	n/a	chr2:177628973-177628987
16	NANOG	chr2:177628815-177629139	H1-hESC	embryonic stem cell:	n/a	chr2:177629012-177629021
17	MAX	chr2:177628698-177629221	H1-hESC	embryonic stem cell:	n/a	chr2:177628976-177628985 chr2:177628975-177628984
18	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
19	EP300	chr2:177628943-177629178	GM12878	blood:	n/a	chr2:177628976-177628985 chr2:177628975-177628984
20	TEAD4	chr2:177628667-177629185	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr2:177628674-177629170	H1-hESC	embryonic stem cell:	n/a	n/a
22	TEAD4	chr2:177628698-177629234	H1-hESC	embryonic stem cell:	n/a	n/a
23	SRF	chr2:177628774-177629138	H1-hESC	embryonic stem cell:	n/a	chr2:177628822-177628832
24	POLR2A	chr2:177629097-177629196	H1-hESC	embryonic stem cell:	n/a	n/a
25	EP300	chr2:177628726-177629274	H1-hESC	embryonic stem cell:	n/a	chr2:177628976-177628985 chr2:177628975-177628984
26	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
27	YY1	chr2:177628783-177629159	H1-hESC	embryonic stem cell:	n/a	n/a
28	JUND	chr2:177628802-177629163	H1-hESC	embryonic stem cell:	n/a	chr2:177628976-177628984 chr2:177628975-177628985 chr2:177628975-177628984 chr2:177628979-177628991 chr2:177628976-177628983
29	POU5F1	chr2:177628623-177629213	H1-hESC	embryonic stem cell:	n/a	chr2:177629012-177629020 chr2:177629012-177629026 chr2:177629012-177629026
30	EBF1	chr2:177628837-177629224	GM12878	blood:	n/a	n/a
31	TCF12	chr2:177628793-177629174	GM12878	blood:	n/a	n/a
32	MAX	chr2:177628659-177629146	H1-hESC	embryonic stem cell:	n/a	chr2:177628976-177628985 chr2:177628975-177628984
33	JUN	chr2:177628796-177629153	H1-hESC	embryonic stem cell:	n/a	chr2:177628976-177628984 chr2:177628975-177628985 chr2:177628975-177628984 chr2:177628979-177628991 chr2:177628976-177628983
34	SP1	chr2:177628668-177629196	H1-hESC	embryonic stem cell:	n/a	chr2:177629069-177629083
35	TCF12	chr2:177628741-177629177	H1-hESC	embryonic stem cell:	n/a	n/a
36	BATF	chr2:177628764-177629146	GM12878	blood:	n/a	chr2:177628977-177628987 chr2:177628972-177628983
37	TCF3	chr2:177628624-177629240	GM12878	blood:	n/a	n/a
38	POU2F2	chr2:177628792-177629165	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
39	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
40	CREB1	chr2:177628563-177629226	H1-hESC	embryonic stem cell:	n/a	n/a
41	IRF4	chr2:177628744-177629135	GM12878	blood:	n/a	n/a
42	EP300	chr2:177628862-177629140	GM12878	blood:	n/a	chr2:177628976-177628985 chr2:177628975-177628984
43	CHD2	chr2:177628775-177629306	H1-hESC	embryonic stem cell:	n/a	n/a
44	GTF2F1	chr2:177628793-177629161	H1-hESC	embryonic stem cell:	n/a	n/a
45	RUNX3	chr2:177628789-177629214	GM12878	blood:	n/a	n/a
46	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

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	chr2:177627000-177629200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:177627800-177629600	Enhancers	Brain Germinal Matrix	brain
4	chr2:177628000-177630600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:177628200-177629200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:177628200-177629400	Enhancers	Fetal Brain Female	brain
7	chr2:177628200-177629600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr2:177628200-177629800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:177628400-177631000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:177628600-177629200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:177628600-177629200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:177628600-177629400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr2:177628600-177631200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:177628800-177629200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:177628800-177629200	Bivalent Enhancer	Fetal Brain Male	brain
16	chr2:177628800-177630400	Enhancers	Primary B cells from peripheral blood	blood
17	chr2:177628800-177630800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr2:177628800-177631400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:177628800-177655400	Weak transcription	Ovary	ovary
20	chr2:177629000-177629200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
21	chr2:177629000-177629200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr2:177629000-177629200	Enhancers	GM12878-XiMat	blood
23	chr2:177629000-177629400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:177629000-177630800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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