Variant report

Variant	rs12679585
Chromosome Location	chr8:95651303-95651304
allele	A/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	FOXM1	chr8:95650997-95652023	MCF-7	breast:	n/a	n/a
2	FOXA1	chr8:95651154-95651919	T-47D	breast:	n/a	n/a
3	TCF12	chr8:95650966-95652150	ECC-1	luminal epithelium:	n/a	chr8:95651813-95651823
4	TBP	chr8:95651226-95651905	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr8:95651062-95652245	MCF-7	breast:	n/a	n/a
6	NFIC	chr8:95650997-95652064	ECC-1	luminal epithelium:	n/a	n/a
7	SIN3A	chr8:95651241-95655158	H1-hESC	embryonic stem cell:	n/a	chr8:95652515-95652526 chr8:95654956-95654970 chr8:95652755-95652768 chr8:95651778-95651787
8	CTCF	chr8:95651267-95651393	MCF-7	breast:	n/a	chr8:95651284-95651297
9	POLR2A	chr8:95651047-95651955	ECC-1	luminal epithelium:	n/a	n/a
10	GATA3	chr8:95651052-95651631	T-47D	breast:	n/a	n/a
11	GATA3	chr8:95650737-95653991	MCF-7	breast:	n/a	chr8:95652311-95652321 chr8:95653341-95653351
12	CTCF	chr8:95651200-95651350	HMEC	breast:	n/a	chr8:95651284-95651297 chr8:95651245-95651258
13	ZBTB7A	chr8:95651102-95652073	ECC-1	luminal epithelium:	n/a	n/a
14	ZNF143	chr8:95651169-95651856	H1-hESC	embryonic stem cell:	n/a	chr8:95651393-95651408 chr8:95651449-95651459 chr8:95651367-95651386
15	TCF12	chr8:95650853-95653951	MCF-7	breast:	n/a	chr8:95651813-95651823 chr8:95653371-95653378 chr8:95653151-95653158
16	ELF1	chr8:95650735-95652144	MCF-7	breast:	n/a	chr8:95651710-95651719 chr8:95651706-95651718
17	E2F6	chr8:95650921-95652031	H1-hESC	embryonic stem cell:	n/a	chr8:95651449-95651459 chr8:95651707-95651716
18	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
19	YY1	chr8:95651185-95651981	ECC-1	luminal epithelium:	n/a	chr8:95651497-95651508 chr8:95651710-95651719 chr8:95651742-95651756 chr8:95651241-95651255
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	MAX	chr8:95650813-95653694	MCF-7	breast:	n/a	chr8:95653170-95653180 chr8:95653168-95653183 chr8:95653172-95653181 chr8:95652686-95652696 chr8:95653170-95653179
24	NFIC	chr8:95650999-95652118	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr8:95650948-95651857	MCF10A-Er-Src	breast:	n/a	n/a
26	TAF1	chr8:95651045-95652366	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr8:95650990-95653662	ECC-1	luminal epithelium:	n/a	n/a
28	EP300	chr8:95651109-95651891	MCF-7	breast:	n/a	chr8:95651771-95651787 chr8:95651437-95651453
29	GABPA	chr8:95650926-95652131	MCF-7	breast:	n/a	n/a
30	POLR2A	chr8:95651213-95651989	H1-hESC	embryonic stem cell:	n/a	n/a
31	HDAC2	chr8:95650866-95651898	MCF-7	breast:	n/a	n/a
32	POLR2A	chr8:95650920-95655655	HCT-116	colon:	n/a	n/a
33	EP300	chr8:95651055-95651919	T-47D	breast:	n/a	chr8:95651771-95651787 chr8:95651437-95651453
34	NR2F2	chr8:95650788-95655320	MCF-7	breast:	n/a	n/a
35	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
36	TAF1	chr8:95651024-95651907	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr8:95651006-95651976	H1-hESC	embryonic stem cell:	n/a	n/a
38	GTF2F1	chr8:95651168-95651314	H1-hESC	embryonic stem cell:	n/a	n/a
39	TCF12	chr8:95651271-95651455	H1-hESC	embryonic stem cell:	n/a	n/a
40	HDAC2	chr8:95650904-95655247	MCF-7	breast:	n/a	chr8:95652761-95652780 chr8:95653762-95653771
41	ELF1	chr8:95650969-95651964	MCF-7	breast:	n/a	chr8:95651710-95651719 chr8:95651706-95651718
42	CTCF	chr8:95651300-95651450	SAEC	small airway:	n/a	n/a
43	MYC	chr8:95651158-95651764	MCF-7	breast:	n/a	n/a
44	POLR2A	chr8:95650907-95651845	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr8:95651125-95652078	ProgFib	skin:	n/a	n/a
46	CTBP2	chr8:95651137-95653491	H1-hESC	embryonic stem cell:	n/a	n/a
47	TEAD4	chr8:95651082-95651952	ECC-1	luminal epithelium:	n/a	n/a
48	TEAD4	chr8:95651120-95652001	ECC-1	luminal epithelium:	n/a	n/a
49	ZNF217	chr8:95650806-95651592	MCF-7	breast:	n/a	n/a
50	E2F6	chr8:95651004-95651896	H1-hESC	embryonic stem cell:	n/a	chr8:95651449-95651459 chr8:95651707-95651716

No.	Distal block	Cell Line	Cell type
1	chr8:95625078..95625873-chr8:95650626..95651627,4	MCF-7	breast:
2	chr8:95650400..95656999-chr8:95729644..95735467,19	MCF-7	breast:
3	chr8:95557664..95559966-chr8:95650412..95652511,2	MCF-7	breast:
4	chr8:95651016..95653604-chr8:96280429..96282986,2	MCF-7	breast:
5	chr1:245134222..245134907-chr8:95650967..95651674,2	HCT-116	colon:
6	chr8:95651198..95654140-chr8:95736367..95739273,3	MCF-7	breast:
7	chr8:95563755..95566398-chr8:95651251..95655119,6	MCF-7	breast:
8	chr8:95651216..95652910-chr8:99304920..99307461,2	MCF-7	breast:
9	chr8:95650894..95656484-chr8:95728446..95733482,20	MCF-7	breast:
10	chr8:95649858..95656937-chr8:95675336..95684799,15	MCF-7	breast:
11	chr8:95651059..95653853-chr8:95908677..95911275,2	MCF-7	breast:
12	chr8:95651278..95654428-chr8:95723706..95727705,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA1429-1	chr8:95649513-95651695	ENSG00000261437.1
2	lnc-KIAA1429-1	chr8:95650979-95651695	NONHSAT127786
3	lnc-KIAA1429-1	chr8:95649586-95653069	NONHSAT127788

Variant related genes	Relation type
ESRP1	TF binding region
ENSG00000212997	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000272195	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000164944	Chromatin interaction
ENSG00000199701	Chromatin interaction
ENSG00000104361	Chromatin interaction
ENSG00000104413	Chromatin interaction
ENSG00000253704	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000156162	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16916937	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3808382	0.82[CHB][hapmap]
rs4735315	0.80[ASN][1000 genomes]
rs62523412	0.80[ASN][1000 genomes]
rs7004872	0.82[CHB][hapmap]
rs7827723	0.91[CHB][hapmap]
rs9694810	0.91[CHB][hapmap];0.80[ASN][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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95650400-95651400	Active TSS	Colonic Mucosa	Colon
2	chr8:95650600-95654800	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr8:95650800-95651400	Active TSS	Duodenum Mucosa	Duodenum
4	chr8:95650800-95651400	Active TSS	Stomach Mucosa	stomach
5	chr8:95650800-95652000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
6	chr8:95650800-95652600	Flanking Active TSS	HMEC	breast
7	chr8:95650800-95653000	Bivalent/Poised TSS	Fetal Kidney	kidney
8	chr8:95650800-95654200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr8:95650800-95654800	Active TSS	H1 Cell Line	embryonic stem cell
10	chr8:95650800-95655200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr8:95650800-95655200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr8:95650800-95655200	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr8:95650800-95655400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr8:95650800-95655400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr8:95650800-95655400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr8:95650800-95655400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr8:95651000-95651400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
18	chr8:95651000-95651400	Active TSS	Rectal Smooth Muscle	rectum
19	chr8:95651000-95651600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr8:95651000-95652400	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr8:95651000-95652600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:95651000-95652600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
23	chr8:95651000-95655200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr8:95651000-95655200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr8:95651000-95655600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:95651200-95651400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:95651200-95651400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:95651200-95651400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:95651200-95651400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:95651200-95651400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:95651200-95651400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:95651200-95651400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr8:95651200-95651400	Active TSS	Lung	lung
34	chr8:95651200-95651400	Enhancers	Spleen	Spleen
35	chr8:95651200-95651600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:95651200-95651600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:95651200-95651600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:95651200-95651600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr8:95651200-95651600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
40	chr8:95651200-95651600	Flanking Active TSS	Pancreas	Pancrea
41	chr8:95651200-95651600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
42	chr8:95651200-95651600	Active TSS	NHEK	skin
43	chr8:95651200-95651800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:95651200-95651800	Bivalent Enhancer	Left Ventricle	heart
45	chr8:95651200-95651800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
46	chr8:95651200-95652000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:95651200-95652000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:95651200-95652000	Bivalent Enhancer	Fetal Heart	heart
49	chr8:95651200-95652000	Bivalent/Poised TSS	A549	lung
50	chr8:95651200-95652200	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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