Variant report

Variant	rs73983722
Chromosome Location	chr2:209118420-209118421
allele	C/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	EP300	chr2:209118336-209119386	K562	blood:	n/a	chr2:209119273-209119289
2	IRF1	chr2:209117360-209119315	K562	blood:	n/a	chr2:209117523-209117533 chr2:209119158-209119172 chr2:209117525-209117534 chr2:209117519-209117536 chr2:209119168-209119182 chr2:209117519-209117533
3	TCF7L2	chr2:209118407-209118841	HEK293	kidney:	n/a	chr2:209118560-209118576 chr2:209118560-209118576 chr2:209118563-209118572
4	TEAD4	chr2:209118072-209120414	HepG2	liver:	n/a	n/a
5	CEBPB	chr2:209117636-209119421	HepG2	liver:	n/a	chr2:209118838-209118850 chr2:209118278-209118287 chr2:209118278-209118287 chr2:209118276-209118289 chr2:209118278-209118287 chr2:209118276-209118287 chr2:209118276-209118289 chr2:209118970-209118981 chr2:209118278-209118287
6	HDAC2	chr2:209118369-209119496	HepG2	liver:	n/a	chr2:209118440-209118449 chr2:209118458-209118472
7	POLR2A	chr2:209118288-209118453	MCF10A-Er-Src	breast:	n/a	n/a
8	CTCF	chr2:209118420-209118570	AoAF	blood vessel:	n/a	n/a
9	CREB1	chr2:209118372-209120491	HepG2	liver:	n/a	n/a
10	CHD2	chr2:209118415-209120249	HepG2	liver:	n/a	n/a
11	NFIC	chr2:209118100-209119546	HepG2	liver:	n/a	n/a
12	SP1	chr2:209118417-209119380	HepG2	liver:	n/a	chr2:209119171-209119181 chr2:209119107-209119121 chr2:209119161-209119170 chr2:209119160-209119172 chr2:209119161-209119175 chr2:209119160-209119172
13	TFAP2A	chr2:209118409-209119259	Hela-S3	cervix:	n/a	chr2:209118827-209118842 chr2:209119175-209119186
14	CEBPB	chr2:209117637-209118455	IMR90	lung:	n/a	chr2:209118278-209118287 chr2:209118278-209118287 chr2:209118276-209118289 chr2:209118278-209118287 chr2:209118276-209118287 chr2:209118276-209118289 chr2:209118278-209118287
15	CEBPB	chr2:209117537-209119406	Hela-S3	cervix:	n/a	chr2:209118838-209118850 chr2:209118278-209118287 chr2:209118278-209118287 chr2:209118276-209118289 chr2:209118278-209118287 chr2:209118276-209118287 chr2:209118276-209118289 chr2:209118970-209118981 chr2:209118278-209118287
16	MAX	chr2:209118387-209120432	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr2:209117554-209118454	A549	lung:	n/a	chr2:209118278-209118287 chr2:209118278-209118287 chr2:209118276-209118289 chr2:209118278-209118287 chr2:209118276-209118287 chr2:209118276-209118289 chr2:209118278-209118287
18	HNF4G	chr2:209118377-209119357	HepG2	liver:	n/a	chr2:209118808-209118822 chr2:209118809-209118821 chr2:209118809-209118822 chr2:209118808-209118823 chr2:209118777-209118792 chr2:209118809-209118821 chr2:209118806-209118824 chr2:209118849-209118861 chr2:209118809-209118821 chr2:209118809-209118821
19	CTCF	chr2:209118319-209119547	A549	lung:	n/a	chr2:209119178-209119187 chr2:209119175-209119185 chr2:209119273-209119286 chr2:209119173-209119189 chr2:209119172-209119190
20	EP300	chr2:209118363-209120203	HepG2	liver:	n/a	chr2:209119273-209119289
21	POLR2A	chr2:209099467-209120161	K562	blood:	n/a	n/a
22	MYBL2	chr2:209118018-209120938	HepG2	liver:	n/a	n/a
23	NR2F2	chr2:209118346-209119459	HepG2	liver:	n/a	chr2:209118846-209118861
24	MYBL2	chr2:209118259-209121792	HepG2	liver:	n/a	n/a
25	MAFK	chr2:209118406-209119338	K562	blood:	n/a	n/a
26	GATA3	chr2:209118364-209119369	MCF-7	breast:	n/a	chr2:209118441-209118448 chr2:209118439-209118448 chr2:209118441-209118448 chr2:209118439-209118449 chr2:209118439-209118448 chr2:209118441-209118448
27	SIN3AK20	chr2:209118361-209120543	MCF-7	breast:	n/a	n/a
28	CTCF	chr2:209118400-209118550	AoAF	blood vessel:	n/a	n/a
29	IRF1	chr2:209117693-209119371	K562	blood:	n/a	chr2:209119158-209119172 chr2:209119168-209119182
30	CEBPB	chr2:209117548-209119430	K562	blood:	n/a	chr2:209118838-209118850 chr2:209118278-209118287 chr2:209118278-209118287 chr2:209118276-209118289 chr2:209118278-209118287 chr2:209118276-209118287 chr2:209118276-209118289 chr2:209118970-209118981 chr2:209118278-209118287
31	ARID3A	chr2:209117545-209119307	K562	blood:	n/a	n/a
32	GATA1	chr2:209117331-209119686	PBDE	blood:	n/a	chr2:209118441-209118448 chr2:209118439-209118448 chr2:209118441-209118448 chr2:209118439-209118449 chr2:209117381-209117397 chr2:209117386-209117393 chr2:209117386-209117393 chr2:209117962-209117975 chr2:209118439-209118448 chr2:209118441-209118448 chr2:209117386-209117393
33	ARID3A	chr2:209118343-209119489	HepG2	liver:	n/a	n/a
34	MBD4	chr2:209118292-209120538	HepG2	liver:	n/a	n/a
35	TCF7L2	chr2:209118345-209118849	HepG2	liver:	n/a	chr2:209118560-209118576 chr2:209118560-209118576 chr2:209118563-209118572
36	MAZ	chr2:209118210-209120343	Hela-S3	cervix:	n/a	n/a
37	MYC	chr2:209118397-209120428	K562	blood:	n/a	n/a
38	CTCF	chr2:209118331-209120704	SK-N-SH	brain:	n/a	chr2:209119178-209119187 chr2:209119175-209119185 chr2:209119273-209119286 chr2:209119173-209119189 chr2:209119172-209119190
39	POLR2A	chr2:209117640-209119841	HepG2	liver:	n/a	n/a
40	BRCA1	chr2:209118364-209119223	Hela-S3	cervix:	n/a	n/a
41	MXI1	chr2:209117694-209120637	SK-N-SH	brain:	n/a	n/a
42	CTCF	chr2:209118360-209118510	HVMF	connective:	n/a	n/a
43	POLR2A	chr2:209117590-209120601	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:209117138..209121626-chr2:209129108..209132782,7	MCF-7	breast:
2	chr2:209095163..209099233-chr2:209117961..209120869,4	K562	blood:
3	chr2:209116323..209122695-chr2:209127326..209132568,14	K562	blood:
4	chr2:209116323..209123332-chr2:209127326..209134005,17	K562	blood:
5	chr2:209104117..209105753-chr2:209117843..209120211,2	MCF-7	breast:
6	chr2:209118313..209121811-chr2:209130870..209135068,6	MCF-7	breast:

Variant related genes	Relation type
IDH1-AS1	TF binding region
ENSG00000228380	Chromatin interaction
ENSG00000263524	Chromatin interaction
ENSG00000115020	Chromatin interaction
ENSG00000138413	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56155387	1.00[AFR][1000 genomes]
rs58767639	1.00[AFR][1000 genomes]
rs73983718	1.00[AFR][1000 genomes]
rs73983721	1.00[AFR][1000 genomes]
rs73983725	1.00[AFR][1000 genomes]
rs73983728	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209105000-209118800	Weak transcription	Gastric	stomach
2	chr2:209106800-209118800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:209112800-209118800	Weak transcription	Lung	lung
4	chr2:209113600-209118600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:209113800-209118600	Weak transcription	Colonic Mucosa	Colon
6	chr2:209114200-209118800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:209114200-209118800	Weak transcription	Esophagus	oesophagus
8	chr2:209114200-209118800	Weak transcription	Spleen	Spleen
9	chr2:209116400-209118800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
10	chr2:209116400-209119000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:209116600-209118600	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
12	chr2:209116600-209118600	Enhancers	Stomach Mucosa	stomach
13	chr2:209116800-209118600	Enhancers	Fetal Intestine Small	intestine
14	chr2:209116800-209118800	Flanking Active TSS	Liver	Liver
15	chr2:209117000-209118600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
16	chr2:209117000-209118600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:209117000-209118600	Transcr. at gene 5' and 3'	K562	blood
18	chr2:209117000-209119000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:209117000-209119600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:209117200-209118800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
21	chr2:209117200-209118800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr2:209117200-209120400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:209117600-209118600	Flanking Active TSS	Fetal Brain Female	brain
24	chr2:209117600-209118600	Transcr. at gene 5' and 3'	A549	lung
25	chr2:209117600-209118800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
26	chr2:209117600-209118800	Flanking Active TSS	Brain Anterior Caudate	brain
27	chr2:209117600-209118800	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr2:209117600-209119000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr2:209117800-209118600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr2:209117800-209118600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
31	chr2:209117800-209118600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr2:209117800-209118800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:209117800-209118800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:209117800-209118800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:209117800-209118800	Active TSS	Right Atrium	heart
36	chr2:209117800-209120600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr2:209117800-209120800	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr2:209118000-209118600	Enhancers	Primary T cells fromperipheralblood	blood
39	chr2:209118000-209118600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr2:209118000-209118600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr2:209118000-209118600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr2:209118000-209118600	Enhancers	Pancreas	Pancrea
43	chr2:209118000-209118600	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr2:209118000-209118600	Flanking Active TSS	HMEC	breast
45	chr2:209118000-209118800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr2:209118000-209118800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr2:209118000-209118800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr2:209118000-209119000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:209118000-209119000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr2:209118000-209119000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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