Variant report

Variant	rs73034238
Chromosome Location	chr1:168721796-168721797
allele	A/C
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	ZNF217	chr1:168721223-168721827	MCF-7	breast:	n/a	n/a
2	GATA3	chr1:168721263-168721806	T-47D	breast:	n/a	chr1:168721635-168721642 chr1:168721631-168721647 chr1:168721628-168721649 chr1:168721635-168721644 chr1:168721634-168721644
3	SP1	chr1:168721125-168721957	A549	lung:	n/a	chr1:168721792-168721804 chr1:168721793-168721807 chr1:168721792-168721804 chr1:168721794-168721803
4	JUND	chr1:168721317-168721846	MCF-7	breast:	n/a	chr1:168721502-168721511 chr1:168721502-168721512 chr1:168721501-168721512 chr1:168721503-168721512 chr1:168721503-168721510
5	GATA3	chr1:168721170-168721876	A549	lung:	n/a	chr1:168721635-168721642 chr1:168721631-168721647 chr1:168721628-168721649 chr1:168721635-168721644 chr1:168721634-168721644
6	HDAC2	chr1:168721262-168721816	MCF-7	breast:	n/a	chr1:168721634-168721643
7	EP300	chr1:168721279-168721836	HepG2	liver:	n/a	chr1:168721628-168721637 chr1:168721503-168721512
8	CEBPB	chr1:168721185-168721901	A549	lung:	n/a	chr1:168721347-168721358 chr1:168721347-168721358
9	BCL3	chr1:168721159-168721804	A549	lung:	n/a	n/a
10	MAX	chr1:168721353-168722006	Hela-S3	cervix:	n/a	chr1:168721793-168721803
11	CEBPB	chr1:168721164-168721867	Hela-S3	cervix:	n/a	chr1:168721347-168721358 chr1:168721347-168721358
12	SMC3	chr1:168721253-168721918	Hela-S3	cervix:	n/a	n/a
13	RFX5	chr1:168721435-168721861	Hela-S3	cervix:	n/a	n/a
14	MYC	chr1:168721382-168721876	Hela-S3	cervix:	n/a	chr1:168721793-168721803
15	MAX	chr1:168721227-168721812	A549	lung:	n/a	chr1:168721793-168721803
16	RAD21	chr1:168721268-168721804	A549	lung:	n/a	n/a
17	CEBPB	chr1:168721208-168721879	MCF-7	breast:	n/a	chr1:168721347-168721358 chr1:168721347-168721358
18	KAP1	chr1:168720220-168721969	U2OS	brain:	n/a	chr1:168721501-168721510
19	FOXM1	chr1:168721074-168721840	MCF-7	breast:	n/a	n/a
20	SIN3AK20	chr1:168721140-168721902	MCF-7	breast:	n/a	n/a
21	CEBPB	chr1:168721165-168721881	MCF-7	breast:	n/a	chr1:168721347-168721358 chr1:168721347-168721358
22	SP1	chr1:168721099-168722131	A549	lung:	n/a	chr1:168721792-168721804 chr1:168721793-168721807 chr1:168721792-168721804 chr1:168721794-168721803
23	FOXA2	chr1:168721239-168721995	A549	lung:	n/a	n/a
24	HDAC2	chr1:168721316-168721805	MCF-7	breast:	n/a	chr1:168721634-168721643
25	REST	chr1:168721238-168721906	A549	lung:	n/a	chr1:168721674-168721681
26	JUN	chr1:168721289-168721819	Hela-S3	cervix:	n/a	chr1:168721502-168721511 chr1:168721502-168721512 chr1:168721503-168721512 chr1:168721503-168721510
27	EP300	chr1:168721164-168721918	A549	lung:	n/a	chr1:168721628-168721637 chr1:168721503-168721512
28	GATA3	chr1:168721233-168721898	MCF-7	breast:	n/a	chr1:168721635-168721642 chr1:168721631-168721647 chr1:168721628-168721649 chr1:168721635-168721644 chr1:168721634-168721644
29	FOSL2	chr1:168721072-168722013	A549	lung:	n/a	chr1:168721502-168721511 chr1:168721089-168721101 chr1:168721502-168721512 chr1:168721503-168721512 chr1:168721503-168721510
30	GATA3	chr1:168721028-168721921	MCF-7	breast:	n/a	chr1:168721635-168721642 chr1:168721631-168721647 chr1:168721628-168721649 chr1:168721635-168721644 chr1:168721634-168721644
31	MAX	chr1:168721227-168722022	A549	lung:	n/a	chr1:168721793-168721803
32	EP300	chr1:168721247-168721901	Hela-S3	cervix:	n/a	chr1:168721628-168721637 chr1:168721503-168721512
33	JUND	chr1:168721305-168721861	Hela-S3	cervix:	n/a	chr1:168721502-168721511 chr1:168721502-168721512 chr1:168721501-168721512 chr1:168721503-168721512 chr1:168721503-168721510
34	GATA3	chr1:168721171-168722088	A549	lung:	n/a	chr1:168721635-168721642 chr1:168721631-168721647 chr1:168721628-168721649 chr1:168721635-168721644 chr1:168721634-168721644
35	EP300	chr1:168721039-168722061	A549	lung:	n/a	chr1:168721628-168721637 chr1:168721503-168721512
36	STAT3	chr1:168721288-168721909	Hela-S3	cervix:	n/a	chr1:168721502-168721511
37	TCF12	chr1:168721077-168722056	A549	lung:	n/a	n/a
38	CEBPB	chr1:168721135-168721935	A549	lung:	n/a	chr1:168721347-168721358 chr1:168721347-168721358
39	FOSL2	chr1:168721326-168721797	MCF-7	breast:	n/a	chr1:168721502-168721511 chr1:168721502-168721512 chr1:168721503-168721512 chr1:168721503-168721510
40	MAX	chr1:168721333-168721954	Hela-S3	cervix:	n/a	chr1:168721793-168721803
41	KAP1	chr1:168720384-168722037	HEK293	kidney:	n/a	chr1:168721501-168721510
42	GTF2F1	chr1:168721441-168721885	Hela-S3	cervix:	n/a	n/a
43	CHD2	chr1:168721438-168721873	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168721671..168723479-chr1:168723958..168727658,3	MCF-7	breast:
2	chr1:168717969..168723195-chr1:169075012..169079192,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221578	TF binding region
ENSG00000143153	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10919012	1.00[EUR][1000 genomes]
rs12058057	1.00[EUR][1000 genomes]
rs12058379	1.00[EUR][1000 genomes]
rs12060178	1.00[EUR][1000 genomes]
rs12061744	1.00[EUR][1000 genomes]
rs12063868	1.00[EUR][1000 genomes]
rs12064456	1.00[EUR][1000 genomes]
rs12072744	1.00[EUR][1000 genomes]
rs12078028	1.00[EUR][1000 genomes]
rs12079471	1.00[EUR][1000 genomes]
rs12082826	1.00[EUR][1000 genomes]
rs2064472	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2206299	1.00[EUR][1000 genomes]
rs56930710	1.00[EUR][1000 genomes]
rs57257422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58149156	1.00[EUR][1000 genomes]
rs59796296	1.00[EUR][1000 genomes]
rs60014051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60151518	1.00[EUR][1000 genomes]
rs60306829	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60993038	1.00[EUR][1000 genomes]
rs61365006	1.00[EUR][1000 genomes]
rs73032097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73032100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73034203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73034209	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73034218	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73034224	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040271	1.00[EUR][1000 genomes]
rs73042062	1.00[EUR][1000 genomes]
rs7549645	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168711200-168724200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:168720000-168722000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:168720200-168721800	Enhancers	Rectal Smooth Muscle	rectum
4	chr1:168720400-168722000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:168720600-168722200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr1:168720600-168722600	Enhancers	Fetal Lung	lung
7	chr1:168720800-168722000	Flanking Active TSS	A549	lung
8	chr1:168720800-168722000	Bivalent Enhancer	HepG2	liver
9	chr1:168720800-168724000	Weak transcription	Fetal Heart	heart
10	chr1:168721000-168723600	Weak transcription	Fetal Kidney	kidney
11	chr1:168721000-168723800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:168721200-168725400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:168721400-168722000	Enhancers	Stomach Mucosa	stomach
14	chr1:168721400-168725200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:168721600-168722000	Enhancers	Colonic Mucosa	Colon
16	chr1:168721600-168722000	Enhancers	Right Atrium	heart
17	chr1:168721600-168722000	Flanking Active TSS	Hela-S3	cervix
18	chr1:168721600-168722200	Enhancers	Fetal Intestine Large	intestine
19	chr1:168721600-168722200	Enhancers	Fetal Intestine Small	intestine

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