Variant report

Variant	rs56974354
Chromosome Location	chr8:95652474-95652475
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	POLR2A	chr8:95652317-95653620	MCF-7	breast:	n/a	n/a
2	POLR2A	chr8:95652234-95653059	H1-hESC	embryonic stem cell:	n/a	n/a
3	YY1	chr8:95652080-95653487	H1-hESC	embryonic stem cell:	n/a	chr8:95653141-95653155 chr8:95653143-95653152 chr8:95653249-95653263
4	POLR2A	chr8:95652386-95653537	MCF10A-Er-Src	breast:	n/a	n/a
5	SIN3A	chr8:95651241-95655158	H1-hESC	embryonic stem cell:	n/a	chr8:95652515-95652526 chr8:95654956-95654970 chr8:95652755-95652768 chr8:95651778-95651787
6	EGR1	chr8:95652000-95655184	MCF-7	breast:	n/a	chr8:95652687-95652697 chr8:95654431-95654441 chr8:95654431-95654441 chr8:95654429-95654443 chr8:95654432-95654441 chr8:95652683-95652693
7	RAD21	chr8:95652471-95653531	MCF-7	breast:	n/a	chr8:95652686-95652705 chr8:95652690-95652704 chr8:95652782-95652795 chr8:95652497-95652511 chr8:95652913-95652923
8	MXI1	chr8:95652395-95653488	H1-hESC	embryonic stem cell:	n/a	chr8:95653171-95653180 chr8:95653169-95653178
9	GATA3	chr8:95650737-95653991	MCF-7	breast:	n/a	chr8:95652311-95652321 chr8:95653341-95653351
10	POLR2A	chr8:95652375-95655085	H1-hESC	embryonic stem cell:	n/a	n/a
11	TCF12	chr8:95650853-95653951	MCF-7	breast:	n/a	chr8:95651813-95651823 chr8:95653371-95653378 chr8:95653151-95653158
12	NR2F2	chr8:95652361-95654275	MCF-7	breast:	n/a	n/a
13	POLR2A	chr8:95652284-95653928	H1-hESC	embryonic stem cell:	n/a	n/a
14	TBP	chr8:95652295-95654271	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr8:95652360-95652510	NHEK	skin:	n/a	n/a
16	EGR1	chr8:95650969-95653734	HCT-116	colon:	n/a	chr8:95652687-95652697 chr8:95651256-95651265 chr8:95651709-95651720 chr8:95651449-95651462 chr8:95651444-95651466 chr8:95651706-95651716 chr8:95652683-95652693 chr8:95651708-95651721
17	CREB1	chr8:95652472-95653592	H1-hESC	embryonic stem cell:	n/a	chr8:95653110-95653123
18	RFX5	chr8:95652176-95652670	H1-hESC	embryonic stem cell:	n/a	n/a
19	FOXM1	chr8:95652240-95653876	MCF-7	breast:	n/a	n/a
20	SRF	chr8:95650882-95653880	MCF-7	breast:	n/a	n/a
21	BACH1	chr8:95651179-95653514	H1-hESC	embryonic stem cell:	n/a	n/a
22	SIN3AK20	chr8:95650805-95655762	MCF-7	breast:	n/a	n/a
23	CTCF	chr8:95652380-95652530	GM12870	blood:	n/a	n/a
24	MAX	chr8:95650813-95653694	MCF-7	breast:	n/a	chr8:95653170-95653180 chr8:95653168-95653183 chr8:95653172-95653181 chr8:95652686-95652696 chr8:95653170-95653179
25	TAF1	chr8:95652388-95653624	MCF-7	breast:	n/a	n/a
26	POLR2A	chr8:95650990-95653662	ECC-1	luminal epithelium:	n/a	n/a
27	MAX	chr8:95652416-95653219	A549	lung:	n/a	chr8:95653170-95653180 chr8:95653168-95653183 chr8:95653172-95653181 chr8:95652686-95652696 chr8:95653170-95653179
28	GABPA	chr8:95652172-95653702	MCF-7	breast:	n/a	chr8:95652525-95652534
29	POLR2A	chr8:95650920-95655655	HCT-116	colon:	n/a	n/a
30	CTCF	chr8:95652296-95652895	H1-hESC	embryonic stem cell:	n/a	chr8:95652690-95652703 chr8:95652688-95652706
31	MAX	chr8:95652333-95653515	H1-hESC	embryonic stem cell:	n/a	chr8:95653170-95653180 chr8:95653168-95653183 chr8:95653172-95653181 chr8:95652686-95652696 chr8:95653170-95653179
32	NR2F2	chr8:95650788-95655320	MCF-7	breast:	n/a	n/a
33	MAX	chr8:95650820-95653612	ECC-1	luminal epithelium:	n/a	chr8:95653170-95653180 chr8:95653168-95653183 chr8:95653172-95653181 chr8:95652686-95652696 chr8:95653170-95653179
34	ZBTB7A	chr8:95652328-95653634	ECC-1	luminal epithelium:	n/a	chr8:95653188-95653195
35	PML	chr8:95652116-95655155	MCF-7	breast:	n/a	chr8:95653154-95653162 chr8:95652533-95652541
36	MAX	chr8:95652015-95653826	ECC-1	luminal epithelium:	n/a	chr8:95653170-95653180 chr8:95653168-95653183 chr8:95653172-95653181 chr8:95652686-95652696 chr8:95653170-95653179
37	TAF1	chr8:95652373-95653589	H1-hESC	embryonic stem cell:	n/a	n/a
38	HDAC2	chr8:95650904-95655247	MCF-7	breast:	n/a	chr8:95652761-95652780 chr8:95653762-95653771
39	ELF1	chr8:95652280-95653683	MCF-7	breast:	n/a	n/a
40	GATA3	chr8:95652241-95653757	MCF-7	breast:	n/a	chr8:95652311-95652321 chr8:95653341-95653351
41	PML	chr8:95652293-95653612	MCF-7	breast:	n/a	chr8:95653154-95653162 chr8:95652533-95652541
42	EP300	chr8:95652416-95653473	MCF-7	breast:	n/a	chr8:95653442-95653456 chr8:95653141-95653150 chr8:95652630-95652640 chr8:95653245-95653261 chr8:95653143-95653152
43	CTBP2	chr8:95651137-95653491	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr8:95652287-95653599	ECC-1	luminal epithelium:	n/a	n/a
45	E2F6	chr8:95652257-95653600	H1-hESC	embryonic stem cell:	n/a	chr8:95653141-95653151 chr8:95652450-95652467
46	TAF1	chr8:95651980-95654289	H1-hESC	embryonic stem cell:	n/a	n/a
47	E2F6	chr8:95652406-95653047	A549	lung:	n/a	chr8:95652450-95652467
48	ZBTB7A	chr8:95652277-95655024	ECC-1	luminal epithelium:	n/a	chr8:95654475-95654486 chr8:95654695-95654704 chr8:95654622-95654631 chr8:95653188-95653195
49	TAF1	chr8:95652280-95655163	MCF-7	breast:	n/a	n/a
50	YY1	chr8:95652349-95653517	ECC-1	luminal epithelium:	n/a	chr8:95653141-95653155 chr8:95653143-95653152 chr8:95653249-95653263

No.	Distal block	Cell Line	Cell type
1	chr8:95650400..95656999-chr8:95729644..95735467,19	MCF-7	breast:
2	chr8:95603957..95608238-chr8:95651708..95655027,4	MCF-7	breast:
3	chr8:95557664..95559966-chr8:95650412..95652511,2	MCF-7	breast:
4	chr8:95556183..95559262-chr8:95651441..95653267,3	MCF-7	breast:
5	chr8:95564633..95567300-chr8:95651331..95653603,2	MCF-7	breast:
6	chr8:95651016..95653604-chr8:96280429..96282986,2	MCF-7	breast:
7	chr8:95651198..95654140-chr8:95736367..95739273,3	MCF-7	breast:
8	chr8:95563755..95566398-chr8:95651251..95655119,6	MCF-7	breast:
9	chr8:95651216..95652910-chr8:99304920..99307461,2	MCF-7	breast:
10	chr8:95605503..95607045-chr8:95651429..95653106,2	MCF-7	breast:
11	chr8:95652142..95654466-chr8:95834020..95837000,3	MCF-7	breast:
12	chr22:39868300..39869800-chr8:95651396..95652934,2	MCF-7	breast:
13	chr2:192541582..192544174-chr8:95651552..95653304,2	MCF-7	breast:
14	chr20:62129719..62132163-chr8:95651858..95653417,2	MCF-7	breast:
15	chr8:95650894..95656484-chr8:95728446..95733482,20	MCF-7	breast:
16	chr8:95624823..95625409-chr8:95652265..95653134,2	MCF-7	breast:
17	chr8:95649858..95656937-chr8:95675336..95684799,15	MCF-7	breast:
18	chr8:95651059..95653853-chr8:95908677..95911275,2	MCF-7	breast:
19	chr8:95651278..95654428-chr8:95723706..95727705,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA1429-1	chr8:95649586-95653069	NONHSAT127788

Variant related genes	Relation type
ESRP1	TF binding region
ENSG00000261437	TF binding region
ENSG00000254283	Chromatin interaction
ENSG00000101210	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000164941	Chromatin interaction
ENSG00000164944	Chromatin interaction
ENSG00000212997	Chromatin interaction
ENSG00000156162	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000173559	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000253704	Chromatin interaction
ENSG00000128268	Chromatin interaction
ENSG00000104361	Chromatin interaction
ENSG00000199701	Chromatin interaction
ENSG00000104413	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs56039432	1.00[AMR][1000 genomes]
rs58373749	1.00[AMR][1000 genomes]
rs73263294	0.87[AMR][1000 genomes]
rs73695503	1.00[AMR][1000 genomes]
rs73695505	1.00[AMR][1000 genomes]
rs73695506	0.87[AMR][1000 genomes]
rs73695507	1.00[AMR][1000 genomes]
rs73695508	0.87[AMR][1000 genomes]
rs73695509	0.87[AMR][1000 genomes]
rs73695510	1.00[AMR][1000 genomes]
rs73695511	1.00[AMR][1000 genomes]
rs73697527	1.00[AMR][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv429929	chr8:95564533-95676894	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95650600-95654800	Active TSS	Rectal Mucosa Donor 31	rectum
2	chr8:95650800-95652600	Flanking Active TSS	HMEC	breast
3	chr8:95650800-95653000	Bivalent/Poised TSS	Fetal Kidney	kidney
4	chr8:95650800-95654200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr8:95650800-95654800	Active TSS	H1 Cell Line	embryonic stem cell
6	chr8:95650800-95655200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr8:95650800-95655200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr8:95650800-95655200	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr8:95650800-95655400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr8:95650800-95655400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr8:95650800-95655400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr8:95650800-95655400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr8:95651000-95652600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:95651000-95652600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
15	chr8:95651000-95655200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr8:95651000-95655200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr8:95651000-95655600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:95651200-95652600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:95651200-95652800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:95651200-95653000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:95651200-95653000	Flanking Bivalent TSS/Enh	Placenta	Placenta
22	chr8:95651200-95653000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
23	chr8:95651200-95653200	Active TSS	Esophagus	oesophagus
24	chr8:95651200-95654800	Active TSS	Placenta Amnion	Placenta Amnion
25	chr8:95651200-95655200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:95651200-95655400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:95651200-95655400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
28	chr8:95651200-95655400	Active TSS	Gastric	stomach
29	chr8:95651400-95652600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
30	chr8:95651400-95652600	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
31	chr8:95651400-95652600	Bivalent/Poised TSS	Thymus	Thymus
32	chr8:95651400-95653000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
33	chr8:95651400-95653600	Bivalent Enhancer	Fetal Brain Male	brain
34	chr8:95651400-95655600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
35	chr8:95651600-95652600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:95651600-95652800	Bivalent/Poised TSS	Right Ventricle	heart
37	chr8:95651600-95653200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
38	chr8:95651600-95653600	Bivalent Enhancer	Fetal Lung	lung
39	chr8:95651600-95653600	Enhancers	Spleen	Spleen
40	chr8:95651600-95655000	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr8:95651600-95655200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:95651600-95655400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:95651600-95655400	Active TSS	Pancreas	Pancrea
44	chr8:95651800-95652600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr8:95651800-95652600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
46	chr8:95651800-95652600	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:95651800-95652600	Bivalent/Poised TSS	Lung	lung
48	chr8:95651800-95653400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
49	chr8:95651800-95654600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
50	chr8:95652000-95652600	Flanking Bivalent TSS/Enh	A549	lung

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