Variant report

Variant	rs12082805
Chromosome Location	chr1:152157946-152157947
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	RAD21	chr1:152157791-152158624	MCF-7	breast:	n/a	chr1:152158234-152158243 chr1:152158225-152158244
2	FOXA2	chr1:152157822-152158516	A549	lung:	n/a	n/a
3	SMC3	chr1:152157482-152158567	SK-N-SH	brain:	n/a	chr1:152158236-152158243 chr1:152158231-152158245 chr1:152158229-152158243
4	FOXA1	chr1:152157932-152158470	T-47D	breast:	n/a	chr1:152158188-152158203
5	CTCF	chr1:152157740-152158659	MCF-7	breast:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
6	RAD21	chr1:152157784-152158649	HCT-116	colon:	n/a	chr1:152158234-152158243 chr1:152158225-152158244
7	RAD21	chr1:152157921-152158586	HCT-116	colon:	n/a	chr1:152158234-152158243 chr1:152158225-152158244
8	RAD21	chr1:152157924-152158465	H1-hESC	embryonic stem cell:	n/a	chr1:152158234-152158243 chr1:152158225-152158244
9	RAD21	chr1:152157882-152158616	SK-N-SH	brain:	n/a	chr1:152158234-152158243 chr1:152158225-152158244
10	RAD21	chr1:152157938-152158425	HepG2	liver:	n/a	chr1:152158234-152158243 chr1:152158225-152158244
11	CTCF	chr1:152157704-152158656	SK-N-SH	brain:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
12	CTCF	chr1:152157883-152158568	MCF-7	breast:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
13	RAD21	chr1:152157905-152158597	A549	lung:	n/a	chr1:152158234-152158243 chr1:152158225-152158244
14	RAD21	chr1:152157923-152158505	A549	lung:	n/a	chr1:152158234-152158243 chr1:152158225-152158244
15	RAD21	chr1:152157913-152158508	ECC-1	luminal epithelium:	n/a	chr1:152158234-152158243 chr1:152158225-152158244
16	RAD21	chr1:152157897-152158489	Hela-S3	cervix:	n/a	chr1:152158234-152158243 chr1:152158225-152158244
17	CTCF	chr1:152157880-152158030	GM12867	blood:	n/a	n/a
18	RAD21	chr1:152157857-152158550	MCF-7	breast:	n/a	chr1:152158234-152158243 chr1:152158225-152158244
19	SMC3	chr1:152157937-152158499	Hela-S3	cervix:	n/a	chr1:152158236-152158243 chr1:152158231-152158245 chr1:152158229-152158243
20	CTCF	chr1:152157785-152158699	A549	lung:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
21	CTCF	chr1:152157800-152157950	HEK293	kidney:	n/a	n/a
22	CTCF	chr1:152157797-152158614	HCT-116	colon:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
23	CTCF	chr1:152157800-152157950	GM12872	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:152114200..152115148-chr1:152157747..152158687,7	MCF-7	breast:
2	chr1:152116303..152118943-chr1:152156777..152158919,2	MCF-7	breast:
3	chr1:152111690..152113718-chr1:152156883..152160461,3	MCF-7	breast:
4	chr1:152005022..152006958-chr1:152156350..152158073,2	MCF-7	breast:
5	chr1:152114175..152115930-chr1:152155659..152158204,3	MCF-7	breast:
6	chr1:152006732..152007276-chr1:152157793..152158293,2	MCF-7	breast:
7	chr1:152024529..152025807-chr1:152157754..152158654,6	MCF-7	breast:
8	chr1:152033820..152035009-chr1:152157797..152158750,5	MCF-7	breast:
9	chr1:152024636..152025993-chr1:152157493..152159185,17	MCF-7	breast:
10	chr1:152023865..152025668-chr1:152157560..152159687,2	MCF-7	breast:
11	chr1:152156496..152159778-chr1:152417500..152420866,3	MCF-7	breast:
12	chr1:152024794..152025624-chr1:152157743..152158320,3	K562	blood:
13	chr1:151906229..151907160-chr1:152157830..152158806,4	K562	blood:
14	chr1:152113593..152115138-chr1:152157487..152158735,36	MCF-7	breast:

Variant related genes	Relation type
FLG-AS1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11204927	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11204928	1.00[EUR][1000 genomes]
rs12076216	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12078021	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093512	0.98[AFR][1000 genomes]
rs1390486	1.00[EUR][1000 genomes]
rs16833878	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16833880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1908639	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1908640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58755711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72995325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv872442	chr1:152054120-152187641	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv547854	chr1:152145661-152165878	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152151800-152158600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:152152200-152161200	Weak transcription	Right Atrium	heart
3	chr1:152153800-152159800	Enhancers	HMEC	breast
4	chr1:152154000-152160200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:152154200-152158000	Enhancers	NHDF-Ad	bronchial
6	chr1:152154200-152158200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:152154200-152158200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:152154400-152161400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:152154600-152160200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:152154600-152160400	Enhancers	Colon Smooth Muscle	Colon
11	chr1:152155000-152158200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:152155600-152160200	Enhancers	NHEK	skin
13	chr1:152156000-152161200	Weak transcription	A549	lung
14	chr1:152156000-152161200	Weak transcription	HSMM	muscle
15	chr1:152156200-152158200	Weak transcription	Hela-S3	cervix
16	chr1:152157200-152158200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:152157400-152158200	Enhancers	Osteobl	bone
18	chr1:152157600-152159400	Weak transcription	Esophagus	oesophagus
19	chr1:152157800-152158200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:152157800-152161200	Weak transcription	Rectal Smooth Muscle	rectum

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