Variant report

Variant	rs57343173
Chromosome Location	chr1:189743940-189743941
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	TCF12	chr1:189743691-189744773	MCF-7	breast:	n/a	n/a
2	MAFF	chr1:189743812-189744067	HepG2	liver:	n/a	chr1:189743885-189743903
3	TEAD4	chr1:189743785-189744284	A549	lung:	n/a	n/a
4	MAX	chr1:189743838-189744273	MCF-7	breast:	n/a	n/a
5	GATA3	chr1:189743763-189745062	MCF-7	breast:	n/a	n/a
6	CEBPB	chr1:189743808-189744388	MCF-7	breast:	n/a	chr1:189743903-189743914
7	FOXM1	chr1:189743792-189744282	MCF-7	breast:	n/a	n/a
8	ARID3A	chr1:189743917-189744230	HepG2	liver:	n/a	n/a
9	GATA3	chr1:189743690-189744958	MCF-7	breast:	n/a	n/a
10	GATA3	chr1:189743861-189744365	MCF-7	breast:	n/a	n/a
11	GATA3	chr1:189743851-189744350	T-47D	breast:	n/a	n/a
12	TEAD4	chr1:189743753-189744995	MCF-7	breast:	n/a	n/a
13	TCF7L2	chr1:189743902-189744455	MCF-7	breast:	n/a	n/a
14	HDAC2	chr1:189743744-189744486	MCF-7	breast:	n/a	n/a
15	BCL3	chr1:189743704-189744394	A549	lung:	n/a	chr1:189744338-189744347
16	EP300	chr1:189743740-189744465	A549	lung:	n/a	chr1:189744371-189744385
17	FOXA1	chr1:189743847-189744396	T-47D	breast:	n/a	chr1:189744143-189744158
18	GATA3	chr1:189743592-189744472	A549	lung:	n/a	n/a
19	GATA3	chr1:189743506-189745308	MCF-7	breast:	n/a	chr1:189745207-189745216
20	FOXA1	chr1:189743883-189744323	HepG2	liver:	n/a	chr1:189744143-189744158
21	HDAC2	chr1:189743897-189744348	MCF-7	breast:	n/a	n/a
22	EP300	chr1:189743719-189744479	MCF-7	breast:	n/a	chr1:189744371-189744385
23	MAFK	chr1:189743731-189744067	HepG2	liver:	n/a	n/a
24	FOSL2	chr1:189743761-189744801	MCF-7	breast:	n/a	n/a
25	FOXA1	chr1:189743722-189744397	T-47D	breast:	n/a	chr1:189744143-189744158
26	ZNF217	chr1:189743502-189744927	MCF-7	breast:	n/a	n/a
27	GATA3	chr1:189743764-189744335	A549	lung:	n/a	n/a
28	SP1	chr1:189743749-189744470	A549	lung:	n/a	n/a
29	SP1	chr1:189743704-189744362	A549	lung:	n/a	n/a
30	FOXM1	chr1:189743525-189745210	MCF-7	breast:	n/a	n/a
31	FOXA2	chr1:189743727-189744435	A549	lung:	n/a	n/a
32	GATA3	chr1:189743798-189744429	T-47D	breast:	n/a	n/a
33	TCF12	chr1:189743629-189744661	A549	lung:	n/a	n/a
34	EP300	chr1:189743686-189744406	T-47D	breast:	n/a	chr1:189744371-189744385
35	NR2F2	chr1:189743649-189744469	MCF-7	breast:	n/a	n/a
36	RAD21	chr1:189743708-189744583	MCF-7	breast:	n/a	n/a
37	FOSL2	chr1:189743711-189744890	A549	lung:	n/a	n/a
38	TEAD4	chr1:189743755-189744359	A549	lung:	n/a	n/a
39	SIN3AK20	chr1:189743592-189744966	MCF-7	breast:	n/a	n/a
40	CEBPB	chr1:189743808-189744409	A549	lung:	n/a	chr1:189743903-189743914
41	EP300	chr1:189743845-189744366	MCF-7	breast:	n/a	n/a
42	CEBPB	chr1:189743902-189744361	MCF-7	breast:	n/a	chr1:189743903-189743914
43	NR2F2	chr1:189743808-189744365	MCF-7	breast:	n/a	n/a
44	REST	chr1:189743837-189744423	A549	lung:	n/a	n/a
45	MAX	chr1:189743755-189744346	A549	lung:	n/a	n/a
46	GABPA	chr1:189743857-189744194	A549	lung:	n/a	n/a
47	ELF1	chr1:189743680-189744925	MCF-7	breast:	n/a	n/a
48	JUND	chr1:189743818-189745093	MCF-7	breast:	n/a	chr1:189744602-189744613
49	SIN3AK20	chr1:189743718-189744962	MCF-7	breast:	n/a	n/a
50	TEAD4	chr1:189743816-189744287	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:189709848..189710556-chr1:189743646..189744501,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232212	TF binding region

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10449264	1.00[EUR][1000 genomes]
rs10489757	1.00[ASN][1000 genomes]
rs10489758	1.00[ASN][1000 genomes]
rs10489759	1.00[ASN][1000 genomes]
rs12239274	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13373810	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13374026	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13374345	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13374475	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13374577	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13376653	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1502596	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs155903	1.00[EUR][1000 genomes]
rs155905	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs155906	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs155907	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16829235	1.00[ASN][1000 genomes]
rs16829236	1.00[ASN][1000 genomes]
rs16830926	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16830947	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16830955	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16830959	1.00[ASN][1000 genomes]
rs16830968	1.00[ASN][1000 genomes]
rs16830972	1.00[ASN][1000 genomes]
rs16830981	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17838226	1.00[ASN][1000 genomes]
rs28488254	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28702743	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28849150	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28862285	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55745910	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55841697	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56360155	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56366121	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57523607	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57779265	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58571092	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59734914	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61105636	1.00[ASN][1000 genomes]
rs73049532	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73049547	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73049572	1.00[ASN][1000 genomes]
rs74138320	1.00[EUR][1000 genomes]
rs74138324	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74138330	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74138331	1.00[EUR][1000 genomes]
rs74138333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138441	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74138445	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999435	chr1:188997868-189849121	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1012877	chr1:189035500-189804333	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv534452	chr1:189129332-189924389	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv872683	chr1:189286816-189748851	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1005794	chr1:189488465-190063923	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1009290	chr1:189554045-189908459	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv497885	chr1:189562225-190086077	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv872717	chr1:189585380-189748851	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv868954	chr1:189605447-190135265	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv872732	chr1:189653244-189758533	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv548530	chr1:189664857-189775775	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv3921	chr1:189668405-189810638	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv872734	chr1:189679539-189763755	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv1011758	chr1:189683945-189804333	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	esv2764254	chr1:189684184-189754788	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv872735	chr1:189688204-189785833	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	esv3519232	chr1:189704225-189783454	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	esv3519234	chr1:189704429-189783431	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	esv3519233	chr1:189704450-189783407	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv498698	chr1:189704507-189783359	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	esv3519235	chr1:189704508-189783359	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	esv17561	chr1:189705238-189780469	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv433190	chr1:189706625-189781033	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	nsv437313	chr1:189707967-189779531	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
25	nsv438115	chr1:189712171-189781569	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
26	nsv818667	chr1:189717659-189781569	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
27	nsv1013668	chr1:189721806-189830237	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
28	esv3507400	chr1:189722344-189782248	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
29	esv3507401	chr1:189722344-189782248	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
30	esv3522877	chr1:189728929-189784677	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
31	esv3522878	chr1:189729329-189784327	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
32	esv3522879	chr1:189729329-189784327	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
33	esv2756874	chr1:189736833-189819487	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
34	esv2758983	chr1:189736833-189819487	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189743600-189744800	Flanking Active TSS	A549	lung

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