Variant report

Variant	rs73010646
Chromosome Location	chr1:156357563-156357564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPD	chr1:156356779-156358016	HepG2	liver:	n/a	n/a
2	HEY1	chr1:156355296-156357685	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:156354750-156358243	HepG2	liver:	n/a	n/a
4	POLR2A	chr1:156354844-156365052	HepG2	liver:	n/a	n/a
5	MBD4	chr1:156355234-156358056	HepG2	liver:	n/a	n/a
6	HEY1	chr1:156357276-156357869	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:156355257-156358247	HepG2	liver:	n/a	n/a
8	POLR2A	chr1:156354760-156358241	HepG2	liver:	n/a	n/a
9	CHD2	chr1:156357407-156358170	HepG2	liver:	n/a	n/a
10	MYBL2	chr1:156355278-156358106	HepG2	liver:	n/a	n/a
11	POLR2A	chr1:156355170-156358039	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:156353543-156358888	HepG2	liver:	n/a	n/a
13	POLR2A	chr1:156357307-156358043	HepG2	liver:	n/a	n/a
14	MBD4	chr1:156357424-156357951	HepG2	liver:	n/a	n/a
15	FOSL2	chr1:156355221-156358212	HepG2	liver:	n/a	chr1:156355906-156355915
16	POLR2A	chr1:156354828-156358900	HepG2	liver:	n/a	n/a
17	POLR2A	chr1:156357521-156357874	H1-hESC	embryonic stem cell:	n/a	n/a
18	NFIC	chr1:156356685-156357686	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:156351422..156354459-chr1:156356280..156359051,3	MCF-7	breast:
2	chr1:156355128..156357826-chr1:156359937..156361792,2	K562	blood:
3	chr1:156356803..156357690-chr1:156414978..156415617,2	MCF-7	breast:
4	chr1:156355670..156358166-chr1:156425378..156427793,3	MCF-7	breast:
5	chr1:156306263..156308908-chr1:156356980..156360261,3	K562	blood:
6	chr1:156351935..156356814-chr1:156357116..156361846,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237390	TF binding region
ENSG00000163467	Chromatin interaction
ENSG00000132677	Chromatin interaction
ENSG00000163468	Chromatin interaction
ENSG00000236947	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs58960015	0.91[AFR][1000 genomes]
rs61074729	0.87[AFR][1000 genomes]
rs73010647	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010666	0.91[AFR][1000 genomes]
rs73010670	0.89[AFR][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	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases
2	nsv1011302	chr1:156081561-156532624	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	380 gene(s)	inside rSNPs	diseases
3	nsv915822	chr1:156226286-156651655	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
4	esv1793632	chr1:156338992-156366178	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
5	nsv1005335	chr1:156347358-156905648	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	395 gene(s)	inside rSNPs	diseases
6	nsv1004910	chr1:156347358-157258223	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	430 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:156339600-156358000	Weak transcription	Right Atrium	heart
2	chr1:156354800-156357800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:156355000-156357600	Weak transcription	Ovary	ovary
4	chr1:156355000-156357800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:156355600-156357600	Enhancers	Brain Germinal Matrix	brain
6	chr1:156355800-156357800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:156356200-156357600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:156356200-156357600	Enhancers	Brain Substantia Nigra	brain
9	chr1:156356400-156358600	Weak transcription	Gastric	stomach
10	chr1:156357000-156357600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr1:156357000-156357600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:156357000-156357800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:156357200-156357600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:156357200-156357600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:156357200-156357800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
16	chr1:156357200-156357800	Enhancers	HepG2	liver
17	chr1:156357200-156358000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:156357200-156358000	Enhancers	Brain Angular Gyrus	brain
19	chr1:156357200-156358000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr1:156357400-156357600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:156357400-156357600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:156357400-156357600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:156357400-156357600	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr1:156357400-156357600	Enhancers	Fetal Brain Female	brain
25	chr1:156357400-156357800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
26	chr1:156357400-156357800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:156357400-156357800	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr1:156357400-156357800	Enhancers	Brain Cingulate Gyrus	brain
29	chr1:156357400-156358000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr1:156357400-156358000	Bivalent Enhancer	Fetal Heart	heart
31	chr1:156357400-156358400	Bivalent Enhancer	Fetal Intestine Large	intestine
32	chr1:156357400-156358800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:156357400-156358800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
34	chr1:156357400-156359400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr1:156357400-156363000	Enhancers	Fetal Brain Male	brain

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