Variant report

Variant	rs10242037
Chromosome Location	chr7:11012583-11012584
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	EP300	chr7:11012580-11013649	K562	blood:	n/a	chr7:11013499-11013508 chr7:11013495-11013509 chr7:11013457-11013466 chr7:11013212-11013226
2	CHD2	chr7:11012492-11014344	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr7:11012578-11013142	A549	lung:	n/a	n/a
4	HNF4G	chr7:11012541-11013140	HepG2	liver:	n/a	chr7:11012807-11012822
5	GABPA	chr7:11012556-11013753	A549	lung:	n/a	chr7:11013444-11013453 chr7:11013442-11013451 chr7:11013442-11013456 chr7:11013439-11013453 chr7:11013442-11013453
6	RCOR1	chr7:11012374-11012831	K562	blood:	n/a	n/a
7	POLR2A	chr7:11012469-11014389	HepG2	liver:	n/a	n/a
8	FOXA1	chr7:11012551-11013031	HepG2	liver:	n/a	n/a
9	SP2	chr7:11012482-11013090	HepG2	liver:	n/a	n/a
10	MXI1	chr7:11012562-11014365	HepG2	liver:	n/a	n/a
11	POLR2A	chr7:11012506-11014471	H1-hESC	embryonic stem cell:	n/a	n/a
12	NR2F2	chr7:11012569-11013040	K562	blood:	n/a	n/a
13	FOXA1	chr7:11012576-11013132	HepG2	liver:	n/a	n/a
14	SREBP1	chr7:11012490-11013103	HepG2	liver:	n/a	n/a
15	NFYA	chr7:11012395-11013549	K562	blood:	n/a	chr7:11012827-11012845
16	CEBPB	chr7:11012554-11013607	Hela-S3	cervix:	n/a	n/a
17	ZNF384	chr7:11012524-11012875	K562	blood:	n/a	n/a
18	MYC	chr7:11012173-11014780	A549	lung:	n/a	n/a
19	POLR2A	chr7:11012560-11014393	ECC-1	luminal epithelium:	n/a	n/a
20	HEY1	chr7:11012522-11013751	HepG2	liver:	n/a	n/a
21	NRF1	chr7:11012362-11014680	SK-N-SH	brain:	n/a	chr7:11013444-11013453 chr7:11013442-11013451 chr7:11013442-11013456 chr7:11013439-11013453 chr7:11013441-11013452 chr7:11013424-11013435 chr7:11013442-11013453
22	CBX3	chr7:11012418-11013716	K562	blood:	n/a	n/a
23	NFYB	chr7:11012456-11013090	K562	blood:	n/a	n/a
24	POLR2A	chr7:11012496-11014586	K562	blood:	n/a	n/a
25	POLR2A	chr7:11012581-11013676	SK-N-SH	brain:	n/a	n/a
26	TCF7L2	chr7:11012494-11013621	HCT-116	colon:	n/a	n/a
27	PBX3	chr7:11012583-11013059	A549	lung:	n/a	n/a
28	MAX	chr7:11012348-11014515	NB4	blood:	n/a	n/a
29	SREBP1	chr7:11012489-11013904	HepG2	liver:	n/a	n/a
30	JUND	chr7:11012572-11013470	HepG2	liver:	n/a	n/a
31	FOXA1	chr7:11012555-11013056	HepG2	liver:	n/a	n/a
32	ATF2	chr7:11012550-11013322	H1-hESC	embryonic stem cell:	n/a	n/a
33	TEAD4	chr7:11012525-11013463	HepG2	liver:	n/a	n/a
34	MXI1	chr7:11011822-11016195	SK-N-SH	brain:	n/a	n/a
35	TBP	chr7:11012474-11013666	Hela-S3	cervix:	n/a	n/a
36	REST	chr7:11012582-11014641	A549	lung:	n/a	chr7:11014280-11014289 chr7:11013275-11013288 chr7:11014072-11014085 chr7:11014276-11014286
37	MAX	chr7:11012549-11014522	A549	lung:	n/a	n/a
38	ATF2	chr7:11012559-11013715	GM12878	blood:	n/a	n/a
39	SP1	chr7:11012577-11013805	HCT-116	colon:	n/a	chr7:11013277-11013289 chr7:11013274-11013288 chr7:11013277-11013289
40	PBX3	chr7:11012566-11013683	SK-N-SH	brain:	n/a	n/a
41	FOXA2	chr7:11012534-11013169	A549	lung:	n/a	n/a
42	MYC	chr7:11012338-11014589	NB4	blood:	n/a	n/a
43	SP2	chr7:11012490-11013168	HepG2	liver:	n/a	n/a
44	SP1	chr7:11012518-11013793	HCT-116	colon:	n/a	chr7:11013277-11013289 chr7:11013274-11013288 chr7:11013277-11013289
45	POLR2A	chr7:11012550-11013808	PFSK-1	brain:	n/a	n/a
46	POLR2A	chr7:11012525-11014038	HepG2	liver:	n/a	n/a
47	MAX	chr7:11012569-11013813	SK-N-SH	brain:	n/a	n/a
48	MAX	chr7:11012409-11013674	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr7:11012530-11013736	HCT-116	colon:	n/a	n/a
50	POLR2A	chr7:11012551-11013806	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:11007370..11009612-chr7:11011024..11013340,2	MCF-7	breast:
2	chr7:10972277..10974447-chr7:11011761..11013440,2	K562	blood:
3	chr7:10996449..11000162-chr7:11009366..11013332,3	K562	blood:
4	chr7:11010971..11012619-chr7:11259384..11261240,2	MCF-7	breast:
5	chr7:11012451..11014446-chr7:11075009..11077346,2	MCF-7	breast:
6	chr7:10975906..10982429-chr7:11007978..11018673,26	K562	blood:
7	chr7:10977305..10982144-chr7:11011875..11016071,10	MCF-7	breast:
8	chr7:10978242..10981238-chr7:11011671..11015550,7	MCF-7	breast:
9	chr7:10978101..10982429-chr7:11011509..11017731,20	K562	blood:

Variant related genes	Relation type
PHF14	TF binding region
ENSG00000189043	Chromatin interaction
ENSG00000106443	Chromatin interaction
ENSG00000271185	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10085765	0.89[AFR][1000 genomes]
rs10226402	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10230399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10231887	0.81[AFR][1000 genomes]
rs10231890	0.81[AFR][1000 genomes]
rs10233382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10235587	1.00[AMR][1000 genomes]
rs10237004	0.81[AFR][1000 genomes]
rs10242027	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10247314	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10248811	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10252209	1.00[AMR][1000 genomes]
rs10257302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10259691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10261168	0.92[AFR][1000 genomes]
rs10261866	0.81[AFR][1000 genomes]
rs10262117	0.89[AFR][1000 genomes]
rs10263081	1.00[AMR][1000 genomes]
rs10269659	0.81[AFR][1000 genomes]
rs10269929	0.81[AFR][1000 genomes]
rs10270849	1.00[AMR][1000 genomes]
rs10276348	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10276786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10277767	0.81[AFR][1000 genomes]
rs10277787	0.81[AFR][1000 genomes]
rs10280227	1.00[AMR][1000 genomes]
rs10281259	0.81[AFR][1000 genomes]
rs10281970	0.89[AFR][1000 genomes]
rs13438244	0.83[AFR][1000 genomes]
rs28391022	0.81[AFR][1000 genomes]
rs28403972	1.00[AMR][1000 genomes]
rs28444275	1.00[AMR][1000 genomes]
rs28454278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28492913	1.00[AMR][1000 genomes]
rs28502238	0.81[AFR][1000 genomes]
rs28510200	1.00[AMR][1000 genomes]
rs28630530	1.00[AFR][1000 genomes]
rs28817695	0.81[AFR][1000 genomes]
rs4385368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6968254	1.00[AMR][1000 genomes]
rs6970176	0.81[AFR][1000 genomes]
rs6970358	0.81[AFR][1000 genomes]
rs6977308	0.81[AFR][1000 genomes]
rs6977614	0.81[AFR][1000 genomes]
rs73286507	1.00[AMR][1000 genomes]
rs73286514	1.00[AMR][1000 genomes]
rs73286519	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067780	chr7:10649696-11329787	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv491695	chr7:10649696-11329787	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats 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 miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv532092	chr7:10731350-11414759	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv887600	chr7:10807685-11090546	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv949387	chr7:10815994-11281536	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	esv2752140	chr7:10817060-11029748	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv1029882	chr7:10872162-11371145	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS 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	30 gene(s)	inside rSNPs	diseases
13	nsv1031498	chr7:10882696-11110412	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv887601	chr7:10912949-11049523	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	esv3447442	chr7:10985761-11013298	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11011000-11012800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:11012200-11012600	Flanking Active TSS	A549	lung
3	chr7:11012200-11014400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr7:11012400-11012600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr7:11012400-11012600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:11012400-11012600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:11012400-11012600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr7:11012400-11012600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr7:11012400-11012600	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr7:11012400-11012600	Enhancers	Brain Hippocampus Middle	brain
11	chr7:11012400-11012600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr7:11012400-11012600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr7:11012400-11012600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr7:11012400-11012800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr7:11012400-11012800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:11012400-11012800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:11012400-11012800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr7:11012400-11012800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:11012400-11012800	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr7:11012400-11012800	Enhancers	Pancreas	Pancrea
21	chr7:11012400-11012800	Enhancers	Right Atrium	heart
22	chr7:11012400-11012800	Enhancers	Stomach Mucosa	stomach
23	chr7:11012400-11012800	Enhancers	Dnd41	blood
24	chr7:11012400-11012800	Enhancers	GM12878-XiMat	blood
25	chr7:11012400-11012800	Flanking Active TSS	Hela-S3	cervix
26	chr7:11012400-11013000	Flanking Active TSS	Liver	Liver
27	chr7:11012400-11013000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr7:11012400-11013000	Flanking Active TSS	K562	blood
29	chr7:11012400-11014000	Active TSS	Brain Cingulate Gyrus	brain
30	chr7:11012400-11014200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:11012400-11014200	Active TSS	Rectal Smooth Muscle	rectum
32	chr7:11012400-11014200	Active TSS	Stomach Smooth Muscle	stomach
33	chr7:11012400-11014600	Active TSS	H9 Cell Line	embryonic stem cell
34	chr7:11012400-11014600	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr7:11012400-11014600	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr7:11012400-11014600	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr7:11012400-11015000	Active TSS	HepG2	liver
38	chr7:11012400-11015800	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr7:11012400-11016000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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