Variant report

Variant	rs189518297
Chromosome Location	chr2:208977845-208977846
allele	G/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	SIN3AK20	chr2:208977381-208978302	MCF-7	breast:	n/a	n/a
2	BRCA1	chr2:208977581-208978020	Hela-S3	cervix:	n/a	n/a
3	TBP	chr2:208977727-208978191	H1-hESC	embryonic stem cell:	n/a	n/a
4	TCF7L2	chr2:208977654-208978021	MCF-7	breast:	n/a	n/a
5	POLR2A	chr2:208977655-208978130	H1-hESC	embryonic stem cell:	n/a	n/a
6	FOXA1	chr2:208977665-208977947	T-47D	breast:	n/a	chr2:208977821-208977836
7	MAX	chr2:208977641-208978157	MCF-7	breast:	n/a	n/a
8	RCOR1	chr2:208977661-208978195	Hela-S3	cervix:	n/a	n/a
9	GATA3	chr2:208977518-208978320	MCF-7	breast:	n/a	chr2:208977894-208977901
10	MAX	chr2:208977703-208978076	Hela-S3	cervix:	n/a	n/a
11	TFAP2A	chr2:208977647-208978107	Hela-S3	cervix:	n/a	chr2:208977934-208977946
12	MAX	chr2:208977636-208978123	H1-hESC	embryonic stem cell:	n/a	n/a
13	GTF2F1	chr2:208977428-208977977	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr2:208977669-208978022	Hela-S3	cervix:	n/a	n/a
15	TBP	chr2:208977770-208978133	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr2:208977648-208978224	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr2:208977635-208978076	Hela-S3	cervix:	n/a	n/a
18	NR2F2	chr2:208977559-208978214	MCF-7	breast:	n/a	n/a
19	TCF12	chr2:208977694-208978138	ECC-1	luminal epithelium:	n/a	n/a
20	KAP1	chr2:208977575-208978211	HEK293	kidney:	n/a	n/a
21	SIN3AK20	chr2:208977466-208978258	MCF-7	breast:	n/a	n/a
22	EP300	chr2:208977697-208978032	Hela-S3	cervix:	n/a	n/a
23	HDAC2	chr2:208977563-208978158	MCF-7	breast:	n/a	n/a
24	RFX5	chr2:208977684-208978059	Hela-S3	cervix:	n/a	n/a
25	TCF7L2	chr2:208977659-208978164	Hela-S3	cervix:	n/a	n/a
26	SMC3	chr2:208977727-208978057	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr2:208977688-208978208	H1-hESC	embryonic stem cell:	n/a	n/a
28	IRF1	chr2:208977828-208977969	K562	blood:	n/a	n/a
29	KAP1	chr2:208977537-208978187	U2OS	brain:	n/a	n/a
30	POLR2A	chr2:208977789-208978102	H1-hESC	embryonic stem cell:	n/a	n/a
31	TAF1	chr2:208977696-208978165	H1-hESC	embryonic stem cell:	n/a	n/a
32	RAD21	chr2:208977758-208978021	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr2:208977579-208978082	MCF-7	breast:	n/a	n/a
34	GATA3	chr2:208977680-208977997	T-47D	breast:	n/a	chr2:208977894-208977901
35	GATA2	chr2:208977776-208978015	SH-SY5Y	brain:	n/a	chr2:208977894-208977901
36	ZNF217	chr2:208977654-208978039	MCF-7	breast:	n/a	n/a
37	MAX	chr2:208977552-208978187	MCF-7	breast:	n/a	n/a
38	GATA3	chr2:208977691-208977969	MCF-7	breast:	n/a	chr2:208977894-208977901
39	TFAP2C	chr2:208977690-208978106	Hela-S3	cervix:	n/a	n/a
40	TAF1	chr2:208977801-208978087	H1-hESC	embryonic stem cell:	n/a	n/a
41	GATA3	chr2:208977672-208978004	T-47D	breast:	n/a	chr2:208977894-208977901
42	FOXA1	chr2:208977687-208978007	T-47D	breast:	n/a	chr2:208977821-208977836
43	GATA3	chr2:208977479-208978321	MCF-7	breast:	n/a	chr2:208977894-208977901
44	STAT3	chr2:208977660-208977974	Hela-S3	cervix:	n/a	n/a
45	MAZ	chr2:208977734-208978110	Hela-S3	cervix:	n/a	n/a
46	SP1	chr2:208977639-208978040	H1-hESC	embryonic stem cell:	n/a	n/a
47	GATA3	chr2:208977683-208978104	MCF-7	breast:	n/a	chr2:208977894-208977901
48	HDAC2	chr2:208977673-208978123	MCF-7	breast:	n/a	n/a
49	POLR2A	chr2:208977691-208978066	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
CRYGEP	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv875744	chr2:208952810-208994045	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv875745	chr2:208969865-208994045	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv875746	chr2:208971007-208989708	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3443711	chr2:208977244-208989245	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208973200-208989000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:208976600-208978000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:208977200-208978000	Active TSS	H1 Cell Line	embryonic stem cell
4	chr2:208977200-208978000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:208977200-208978000	Enhancers	Gastric	stomach
6	chr2:208977200-208978600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:208977400-208978000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:208977400-208978000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:208977400-208978000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr2:208977400-208978200	Enhancers	Fetal Intestine Small	intestine
11	chr2:208977400-208978400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr2:208977400-208978600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:208977400-208978600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr2:208977400-208978600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr2:208977600-208978000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:208977600-208978000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:208977600-208978000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:208977600-208978000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:208977600-208978000	Bivalent Enhancer	Brain Germinal Matrix	brain
20	chr2:208977600-208978000	Bivalent Enhancer	Brain Hippocampus Middle	brain
21	chr2:208977600-208978000	Bivalent Enhancer	Fetal Brain Female	brain
22	chr2:208977600-208978000	Enhancers	Ovary	ovary
23	chr2:208977600-208978000	Enhancers	Hela-S3	cervix
24	chr2:208977600-208978200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr2:208977600-208978200	Bivalent Enhancer	Fetal Kidney	kidney
26	chr2:208977600-208978400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:208977600-208978400	Bivalent Enhancer	Fetal Intestine Large	intestine
28	chr2:208977600-208978600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:208977800-208978000	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr2:208977800-208978000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:208977800-208978000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:208977800-208978200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:208977800-208978200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr2:208977800-208978200	Enhancers	Placenta	Placenta
35	chr2:208977800-208978400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr2:208977800-208978400	Enhancers	Fetal Thymus	thymus
37	chr2:208977800-208978600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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