Variant report

Variant	rs1496043
Chromosome Location	chr1:152159479-152159480
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	STAT3	chr1:152159067-152160022	MCF10A-Er-Src	breast:	n/a	chr1:152159613-152159622 chr1:152159611-152159622 chr1:152159612-152159621
2	RCOR1	chr1:152159374-152159855	Hela-S3	cervix:	n/a	n/a
3	FOS	chr1:152159155-152159711	MCF10A-Er-Src	breast:	n/a	chr1:152159545-152159553
4	STAT3	chr1:152159429-152159775	MCF10A-Er-Src	breast:	n/a	chr1:152159613-152159622 chr1:152159611-152159622 chr1:152159612-152159621
5	MAX	chr1:152159390-152159658	Hela-S3	cervix:	n/a	n/a
6	STAT3	chr1:152159106-152159764	MCF10A-Er-Src	breast:	n/a	chr1:152159613-152159622 chr1:152159611-152159622 chr1:152159612-152159621
7	RAD21	chr1:152159388-152159695	Hela-S3	cervix:	n/a	chr1:152159663-152159672
8	FOS	chr1:152159070-152159771	MCF10A-Er-Src	breast:	n/a	chr1:152159545-152159553
9	CHD2	chr1:152159398-152159656	Hela-S3	cervix:	n/a	chr1:152159419-152159426
10	FOS	chr1:152159175-152159685	MCF10A-Er-Src	breast:	n/a	chr1:152159545-152159553
11	STAT3	chr1:152159404-152159767	Hela-S3	cervix:	n/a	chr1:152159613-152159622 chr1:152159611-152159622 chr1:152159612-152159621
12	GTF2F1	chr1:152159433-152159846	Hela-S3	cervix:	n/a	n/a
13	SMC3	chr1:152159415-152159699	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr1:152159205-152159696	Hela-S3	cervix:	n/a	n/a
15	MAFK	chr1:152159413-152159743	Hela-S3	cervix:	n/a	chr1:152159560-152159576 chr1:152159559-152159573
16	EP300	chr1:152159346-152159702	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr1:152159405-152159950	Hela-S3	cervix:	n/a	n/a
18	FOS	chr1:152159363-152159723	MCF10A-Er-Src	breast:	n/a	chr1:152159545-152159553
19	MYC	chr1:152159258-152159650	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:152019527..152021275-chr1:152158923..152161325,2	MCF-7	breast:
2	chr1:152134776..152137456-chr1:152158070..152159626,2	MCF-7	breast:
3	chr1:152019280..152022241-chr1:152158199..152159815,3	K562	blood:
4	chr1:152111690..152113718-chr1:152156883..152160461,3	MCF-7	breast:
5	chr1:152023865..152025668-chr1:152157560..152159687,2	MCF-7	breast:
6	chr1:152156496..152159778-chr1:152417500..152420866,3	MCF-7	breast:

Variant related genes	Relation type
FLG-AS1	TF binding region
ENSG00000163191	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs41363352	1.00[MEX][hapmap];0.81[MKK][hapmap]

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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152152200-152161200	Weak transcription	Right Atrium	heart
2	chr1:152153800-152159800	Enhancers	HMEC	breast
3	chr1:152154000-152160200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:152154400-152161400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:152154600-152160200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:152154600-152160400	Enhancers	Colon Smooth Muscle	Colon
7	chr1:152155600-152160200	Enhancers	NHEK	skin
8	chr1:152156000-152161200	Weak transcription	A549	lung
9	chr1:152156000-152161200	Weak transcription	HSMM	muscle
10	chr1:152157800-152161200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:152158000-152161200	Weak transcription	NHDF-Ad	bronchial
12	chr1:152158200-152160600	Enhancers	Hela-S3	cervix
13	chr1:152158200-152161000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:152158200-152161000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:152158200-152161400	Weak transcription	NH-A	brain
16	chr1:152158600-152161200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:152158800-152161200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:152159000-152159800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:152159000-152161200	Weak transcription	Ovary	ovary
20	chr1:152159400-152159800	Enhancers	Esophagus	oesophagus
21	chr1:152159400-152159800	Enhancers	Osteobl	bone
22	chr1:152159400-152160000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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