Variant report

Variant	rs148112408
Chromosome Location	chr2:234654457-234654458
allele	C/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	TEAD4	chr2:234653717-234654604	HepG2	liver:	n/a	n/a
2	EP300	chr2:234653810-234654542	A549	lung:	n/a	chr2:234654068-234654082 chr2:234653862-234653871
3	HNF4A	chr2:234654029-234654486	HepG2	liver:	n/a	chr2:234654285-234654298 chr2:234654285-234654300 chr2:234654281-234654303 chr2:234654233-234654248 chr2:234654285-234654298
4	FOXA1	chr2:234653527-234654585	HepG2	liver:	n/a	n/a
5	MAZ	chr2:234654156-234654548	HepG2	liver:	n/a	chr2:234654380-234654390
6	RXRA	chr2:234653775-234654572	HepG2	liver:	n/a	chr2:234654089-234654098
7	NR3C1	chr2:234653913-234654677	A549	lung:	n/a	chr2:234654251-234654269 chr2:234654250-234654271 chr2:234654252-234654267
8	JUND	chr2:234654066-234654458	A549	lung:	n/a	n/a
9	MYBL2	chr2:234653647-234654627	HepG2	liver:	n/a	n/a
10	CREB1	chr2:234653888-234654608	HepG2	liver:	n/a	n/a
11	ZBTB7A	chr2:234654153-234654502	HepG2	liver:	n/a	n/a
12	NR2F2	chr2:234653889-234654696	HepG2	liver:	n/a	chr2:234654086-234654101
13	RXRA	chr2:234653789-234654533	HepG2	liver:	n/a	chr2:234654089-234654098
14	FOSL2	chr2:234653946-234654485	HepG2	liver:	n/a	n/a
15	HNF4G	chr2:234653857-234654583	HepG2	liver:	n/a	chr2:234654285-234654298 chr2:234654285-234654300 chr2:234654281-234654303 chr2:234654285-234654298
16	NFIC	chr2:234653850-234654505	HepG2	liver:	n/a	n/a
17	HDAC2	chr2:234653853-234654551	HepG2	liver:	n/a	n/a
18	CREB1	chr2:234654062-234654459	A549	lung:	n/a	n/a
19	EP300	chr2:234653700-234654700	A549	lung:	n/a	chr2:234654068-234654082 chr2:234653862-234653871
20	FOXA2	chr2:234653954-234654644	A549	lung:	n/a	n/a
21	FOSL2	chr2:234654000-234654628	HepG2	liver:	n/a	n/a
22	ZBTB33	chr2:234653876-234654466	A549	lung:	n/a	n/a
23	EP300	chr2:234653933-234654548	HepG2	liver:	n/a	chr2:234654068-234654082
24	POLR2A	chr2:234654439-234654591	A549	lung:	n/a	n/a
25	FOXA2	chr2:234653649-234654629	A549	lung:	n/a	n/a
26	FOXA1	chr2:234653871-234654608	HepG2	liver:	n/a	n/a
27	EP300	chr2:234653868-234654574	HepG2	liver:	n/a	chr2:234654068-234654082
28	SP1	chr2:234653644-234654678	A549	lung:	n/a	chr2:234654379-234654391 chr2:234654376-234654390
29	NR2F2	chr2:234653881-234654767	HepG2	liver:	n/a	chr2:234654086-234654101
30	FOXA1	chr2:234653906-234654589	HepG2	liver:	n/a	n/a
31	REST	chr2:234653972-234654548	HepG2	liver:	n/a	chr2:234654377-234654390 chr2:234654501-234654521 chr2:234654501-234654514 chr2:234654501-234654521
32	FOXA2	chr2:234653696-234654749	HepG2	liver:	n/a	n/a
33	MBD4	chr2:234653871-234654565	HepG2	liver:	n/a	n/a
34	CREB1	chr2:234654194-234654509	A549	lung:	n/a	n/a
35	POLR2A	chr2:234654372-234654600	A549	lung:	n/a	n/a
36	ZBTB7A	chr2:234654066-234654520	HepG2	liver:	n/a	n/a
37	FOXA1	chr2:234653830-234654570	HepG2	liver:	n/a	n/a
38	CEBPD	chr2:234654049-234654478	HepG2	liver:	n/a	n/a
39	JUND	chr2:234653959-234654552	A549	lung:	n/a	n/a
40	REST	chr2:234653832-234654612	A549	lung:	n/a	chr2:234654377-234654390 chr2:234654501-234654521 chr2:234654501-234654514 chr2:234654501-234654521
41	BCL3	chr2:234653885-234654544	A549	lung:	n/a	n/a
42	FOSL2	chr2:234653860-234654613	A549	lung:	n/a	n/a
43	CEBPB	chr2:234653892-234654497	A549	lung:	n/a	chr2:234654071-234654082 chr2:234654069-234654086 chr2:234654118-234654130
44	RAD21	chr2:234654005-234654469	HepG2	liver:	n/a	n/a
45	HNF4A	chr2:234653992-234654483	HepG2	liver:	n/a	chr2:234654285-234654298 chr2:234654285-234654300 chr2:234654281-234654303 chr2:234654233-234654248 chr2:234654285-234654298
46	FOXA2	chr2:234653884-234654483	HepG2	liver:	n/a	n/a
47	RCOR1	chr2:234654067-234654486	HepG2	liver:	n/a	n/a
48	NFIC	chr2:234653867-234654592	HepG2	liver:	n/a	n/a
49	NR3C1	chr2:234653977-234654572	A549	lung:	n/a	chr2:234654251-234654269 chr2:234654250-234654271 chr2:234654252-234654267
50	TCF12	chr2:234653939-234654468	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234650134..234652973-chr2:234653062..234655371,2	MCF-7	breast:
2	2:234543708-234558325..2:234649753-234657866	Hela-S3	cervix:

Variant related genes	Relation type
DNAJB3	TF binding region
UGT1A2P	TF binding region
ENSG00000248705	TF binding region
ENSG00000227802	Chromatin interaction
ENSG00000234143	Chromatin interaction
ENSG00000242515	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv3215	chr2:234631123-234670276	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv1811811	chr2:234633964-234709430	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv3385718	chr2:234638378-234656442	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1804811	chr2:234646637-234658623	Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv1806862	chr2:234646637-234658623	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv1809275	chr2:234646637-234658623	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv1814326	chr2:234646637-234658623	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv1804261	chr2:234646637-234659502	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv1807483	chr2:234646637-234659502	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	esv1812800	chr2:234646637-234659502	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	esv1810125	chr2:234646637-234662263	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	esv1809176	chr2:234646637-234664902	Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	esv3692764	chr2:234647478-234658623	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	esv1810359	chr2:234647478-234659502	Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	esv16620	chr2:234648159-234659534	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv498958	chr2:234648331-234660024	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	esv1807207	chr2:234648708-234658250	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	esv1808350	chr2:234648708-234658250	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	esv1808498	chr2:234648708-234658250	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	esv1812627	chr2:234648708-234658250	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	nsv433211	chr2:234648708-234658250	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	esv1812911	chr2:234648708-234658623	Strong transcription Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
26	esv2422005	chr2:234648708-234658623	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
27	esv1808288	chr2:234648708-234659502	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
28	esv1804356	chr2:234648708-234662986	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
29	nsv519815	chr2:234648860-234658623	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
30	esv1808921	chr2:234648954-234666236	Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
31	esv1811500	chr2:234648954-234666236	Bivalent Enhancer Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
32	nsv514125	chr2:234649197-234657965	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
33	esv1806356	chr2:234649589-234658082	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
34	esv1807493	chr2:234649589-234658082	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
35	esv2760613	chr2:234650604-234662263	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
36	esv3340085	chr2:234651714-234660160	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
37	esv3413368	chr2:234652296-234663778	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
38	esv3356788	chr2:234653157-234664730	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
39	esv3506693	chr2:234653208-234664713	Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
40	esv3506694	chr2:234653208-234664713	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
41	esv3410272	chr2:234653209-234664817	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
42	esv8142	chr2:234653225-234664769	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
43	esv3408179	chr2:234653839-234664180	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
44	nsv876018	chr2:234653938-234666461	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234620400-234659200	Weak transcription	Colonic Mucosa	Colon
2	chr2:234626600-234668400	Weak transcription	NHEK	skin
3	chr2:234646400-234666600	Weak transcription	Stomach Mucosa	stomach
4	chr2:234647800-234655000	Weak transcription	Gastric	stomach
5	chr2:234649800-234658800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:234652600-234654600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:234652800-234658200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:234652800-234659200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:234653200-234655600	Enhancers	Fetal Intestine Small	intestine
10	chr2:234654200-234654800	Enhancers	Small Intestine	intestine
11	chr2:234654200-234655000	Enhancers	A549	lung
12	chr2:234654200-234655400	Enhancers	Duodenum Mucosa	Duodenum
13	chr2:234654200-234655400	Enhancers	Fetal Intestine Large	intestine
14	chr2:234654400-234654600	Flanking Active TSS	HepG2	liver
15	chr2:234654400-234656000	Flanking Active TSS	Liver	Liver

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