Variant report

Variant	rs57861609
Chromosome Location	chr1:150230421-150230422
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	MAX	chr1:150228950-150230872	HepG2	liver:	n/a	chr1:150229909-150229919 chr1:150229608-150229615
2	CTBP2	chr1:150229966-150230646	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr1:150228828-150231038	HepG2	liver:	n/a	chr1:150229909-150229919 chr1:150229608-150229615
4	SIN3AK20	chr1:150229893-150230668	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF143	chr1:150230125-150230640	H1-hESC	embryonic stem cell:	n/a	chr1:150230321-150230336
6	POLR2A	chr1:150227691-150230927	H1-hESC	embryonic stem cell:	n/a	n/a
7	HEY1	chr1:150229793-150230481	HepG2	liver:	n/a	chr1:150230091-150230106
8	TBP	chr1:150229935-150230709	H1-hESC	embryonic stem cell:	n/a	chr1:150230137-150230148
9	JUND	chr1:150230286-150230568	HepG2	liver:	n/a	n/a
10	MAZ	chr1:150230221-150230748	HepG2	liver:	n/a	n/a
11	POLR2A	chr1:150229459-150230688	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:150228703-150230673	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr1:150230165-150230736	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr1:150230360-150230510	HepG2	liver:	n/a	chr1:150230475-150230483
15	POLR2A	chr1:150230317-150230823	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZNF263	chr1:150230259-150230665	HEK293-T-REx	kidney:	n/a	chr1:150230648-150230657 chr1:150230431-150230452
17	MYC	chr1:150230088-150230672	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr1:150227875-150230542	H1-hESC	embryonic stem cell:	n/a	n/a
19	SIN3A	chr1:150227779-150231018	H1-hESC	embryonic stem cell:	n/a	chr1:150229504-150229514 chr1:150230143-150230151 chr1:150229505-150229519
20	MXI1	chr1:150229887-150230765	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr1:150230006-150230437	H1-hESC	embryonic stem cell:	n/a	n/a
22	JUND	chr1:150229957-150230769	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr1:150229913-150230744	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr1:150229804-150230646	H1-hESC	embryonic stem cell:	n/a	n/a
25	TAF1	chr1:150229753-150230742	H1-hESC	embryonic stem cell:	n/a	n/a
26	FOXA2	chr1:150230236-150231399	HepG2	liver:	n/a	n/a
27	CHD2	chr1:150230025-150230684	H1-hESC	embryonic stem cell:	n/a	chr1:150230646-150230656

No.	Distal block	Cell Line	Cell type
1	chr1:150205585..150209843-chr1:150227901..150231226,5	K562	blood:
2	chr1:150207177..150209173-chr1:150229648..150233094,4	MCF-7	breast:
3	chr1:150205585..150207162-chr1:150228414..150230615,2	K562	blood:
4	chr1:150229637..150231508-chr1:151169443..151171733,2	MCF-7	breast:
5	chr1:150228907..150230970-chr1:150300079..150302002,2	MCF-7	breast:
6	chr1:150228680..150231125-chr1:150243640..150246471,2	K562	blood:
7	chr1:150227702..150230865-chr1:150236687..150241657,6	K562	blood:

Variant related genes	Relation type
ENSG00000271845	TF binding region
ENSG00000238526	TF binding region
CA14	TF binding region
ENSG00000118292	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000117362	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000117360	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4926421	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers 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 target site	100 gene(s)	inside rSNPs	diseases
2	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
3	nsv872415	chr1:150210538-150248046	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1009508	chr1:150211112-150270830	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv535154	chr1:150214907-150265508	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1011223	chr1:150229205-150279380	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150227800-150233200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:150228000-150230600	Enhancers	Placenta	Placenta
3	chr1:150228000-150232000	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr1:150228000-150232400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:150228000-150232600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr1:150228200-150233000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:150228200-150233200	Enhancers	Fetal Lung	lung
8	chr1:150228400-150230600	Bivalent Enhancer	Fetal Intestine Small	intestine
9	chr1:150228400-150230800	Bivalent Enhancer	Fetal Thymus	thymus
10	chr1:150228400-150232400	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr1:150228600-150232200	Enhancers	K562	blood
12	chr1:150228600-150232800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:150228800-150232400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr1:150229000-150230600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
15	chr1:150229200-150231000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:150229200-150232400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:150229200-150232800	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr1:150229200-150232800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr1:150229400-150230600	Weak transcription	Psoas Muscle	Psoas
20	chr1:150229400-150230800	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr1:150229400-150231000	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr1:150229400-150231000	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr1:150229400-150231200	Active TSS	Brain Cingulate Gyrus	brain
24	chr1:150229400-150231200	Weak transcription	Hela-S3	cervix
25	chr1:150229400-150231400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:150229400-150231600	Weak transcription	HMEC	breast
27	chr1:150229400-150231800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:150229600-150230800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:150229600-150232200	Weak transcription	Pancreas	Pancrea
30	chr1:150229600-150232400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:150229600-150233000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:150229600-150236000	Weak transcription	Lung	lung
33	chr1:150229800-150230600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:150229800-150231000	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr1:150229800-150231000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
36	chr1:150229800-150231200	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr1:150229800-150231400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:150229800-150231600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr1:150229800-150232400	Active TSS	H1 Cell Line	embryonic stem cell
40	chr1:150229800-150233000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:150230000-150230600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
42	chr1:150230000-150230800	Flanking Active TSS	Liver	Liver
43	chr1:150230000-150231000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:150230000-150231200	Active TSS	Brain Angular Gyrus	brain
45	chr1:150230000-150233000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:150230200-150230600	Flanking Active TSS	Fetal Brain Male	brain
47	chr1:150230200-150230600	Flanking Active TSS	Fetal Kidney	kidney
48	chr1:150230200-150230600	Flanking Active TSS	Fetal Muscle Trunk	muscle
49	chr1:150230200-150230800	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr1:150230200-150230800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

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