Variant report

Variant	rs74077367
Chromosome Location	chr1:47640970-47640971
allele	A/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	CTCF	chr1:47640947-47641401	HepG2	liver:	n/a	chr1:47641189-47641207 chr1:47641184-47641205 chr1:47641194-47641202
2	KAP1	chr1:47640920-47641559	U2OS	brain:	n/a	n/a
3	JUND	chr1:47640965-47641376	K562	blood:	n/a	n/a
4	RAD21	chr1:47640969-47641379	HepG2	liver:	n/a	chr1:47641197-47641204 chr1:47641187-47641206
5	CEBPB	chr1:47640784-47641255	HepG2	liver:	n/a	n/a
6	RAD21	chr1:47640937-47641378	HepG2	liver:	n/a	chr1:47641197-47641204 chr1:47641187-47641206
7	RAD21	chr1:47640877-47641472	ECC-1	luminal epithelium:	n/a	chr1:47641197-47641204 chr1:47641187-47641206
8	SMC3	chr1:47640969-47641412	HepG2	liver:	n/a	n/a
9	RAD21	chr1:47640923-47641453	MCF-7	breast:	n/a	chr1:47641197-47641204 chr1:47641187-47641206
10	CTCF	chr1:47640926-47641419	GM12878	blood:	n/a	chr1:47641189-47641207 chr1:47641184-47641205 chr1:47641194-47641202
11	RAD21	chr1:47640875-47641435	A549	lung:	n/a	chr1:47641197-47641204 chr1:47641187-47641206
12	YY1	chr1:47640969-47641290	GM12892	blood:	n/a	n/a
13	JUND	chr1:47640876-47641310	HepG2	liver:	n/a	n/a
14	CTCF	chr1:47640821-47641380	HCT-116	colon:	n/a	chr1:47641189-47641207 chr1:47641184-47641205 chr1:47641194-47641202
15	RAD21	chr1:47640900-47641452	ECC-1	luminal epithelium:	n/a	chr1:47641197-47641204 chr1:47641187-47641206
16	RAD21	chr1:47640963-47641389	H1-hESC	embryonic stem cell:	n/a	chr1:47641197-47641204 chr1:47641187-47641206
17	CTCF	chr1:47640931-47641372	H1-hESC	embryonic stem cell:	n/a	chr1:47641189-47641207 chr1:47641184-47641205 chr1:47641194-47641202
18	RAD21	chr1:47640938-47641297	SK-N-SH_RA	brain:	n/a	chr1:47641197-47641204 chr1:47641187-47641206
19	NR3C1	chr1:47640730-47641234	A549	lung:	n/a	n/a
20	NR3C1	chr1:47640758-47641151	A549	lung:	n/a	n/a
21	CTCF	chr1:47640951-47641345	K562	blood:	n/a	chr1:47641189-47641207 chr1:47641184-47641205 chr1:47641194-47641202
22	RAD21	chr1:47640795-47641542	SK-N-SH	brain:	n/a	chr1:47641197-47641204 chr1:47641187-47641206
23	CTCF	chr1:47640934-47641399	H1-hESC	embryonic stem cell:	n/a	chr1:47641189-47641207 chr1:47641184-47641205 chr1:47641194-47641202
24	CTCF	chr1:47640962-47641473	K562	blood:	n/a	chr1:47641189-47641207 chr1:47641184-47641205 chr1:47641194-47641202
25	CTCF	chr1:47640823-47641432	HCT-116	colon:	n/a	chr1:47641189-47641207 chr1:47641184-47641205 chr1:47641194-47641202
26	CTCF	chr1:47640583-47641650	SK-N-SH	brain:	n/a	chr1:47641189-47641207 chr1:47641184-47641205 chr1:47641194-47641202
27	FOS	chr1:47640872-47641033	MCF10A-Er-Src	breast:	n/a	n/a
28	MAZ	chr1:47640919-47641298	Hela-S3	cervix:	n/a	n/a
29	RCOR1	chr1:47640942-47641374	HepG2	liver:	n/a	n/a
30	POLR2A	chr1:47640629-47641329	Hela-S3	cervix:	n/a	n/a
31	SMC3	chr1:47640954-47641414	Hela-S3	cervix:	n/a	n/a
32	USF2	chr1:47640924-47641425	Hela-S3	cervix:	n/a	n/a
33	ATF3	chr1:47640918-47641273	K562	blood:	n/a	n/a
34	RAD21	chr1:47640854-47641396	HCT-116	colon:	n/a	chr1:47641197-47641204 chr1:47641187-47641206
35	RAD21	chr1:47640900-47641387	H1-hESC	embryonic stem cell:	n/a	chr1:47641197-47641204 chr1:47641187-47641206
36	SMC3	chr1:47639288-47641516	SK-N-SH	brain:	n/a	chr1:47639685-47639699
37	RAD21	chr1:47640860-47641487	HCT-116	colon:	n/a	chr1:47641197-47641204 chr1:47641187-47641206
38	RAD21	chr1:47640931-47641389	A549	lung:	n/a	chr1:47641197-47641204 chr1:47641187-47641206
39	RAD21	chr1:47640957-47641310	MCF-7	breast:	n/a	chr1:47641197-47641204 chr1:47641187-47641206
40	CTCF	chr1:47640950-47641380	K562	blood:	n/a	chr1:47641189-47641207 chr1:47641184-47641205 chr1:47641194-47641202
41	GTF2F1	chr1:47640944-47641397	Hela-S3	cervix:	n/a	n/a
42	RAD21	chr1:47640967-47641404	H1-hESC	embryonic stem cell:	n/a	chr1:47641197-47641204 chr1:47641187-47641206
43	CTCF	chr1:47640840-47641551	A549	lung:	n/a	chr1:47641189-47641207 chr1:47641184-47641205 chr1:47641194-47641202
44	CTCF	chr1:47640954-47641336	K562	blood:	n/a	chr1:47641189-47641207 chr1:47641184-47641205 chr1:47641194-47641202
45	CTCF	chr1:47640917-47641417	IMR90	lung:	n/a	chr1:47641189-47641207 chr1:47641184-47641205 chr1:47641194-47641202
46	MAFF	chr1:47640913-47641460	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:47639046..47642799-chr1:47643265..47647842,8	K562	blood:
2	chr1:47640366..47642048-chr1:47695486..47697663,2	K562	blood:
3	chr1:47639023..47641866-chr1:47695486..47697067,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDZK1IP1-1	chr1:47640226-47640990	XLOC_000819

Variant related genes	Relation type
LINC00853	TF binding region
ENSG00000224805	Chromatin interaction
ENSG00000225506	Chromatin interaction
ENSG00000162367	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1832992	0.83[AFR][1000 genomes]
rs34543672	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3862275	0.83[AFR][1000 genomes]
rs4927295	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57697156	0.83[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916813	chr1:47435635-47666179	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47596400-47641000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:47638800-47644800	Weak transcription	Ovary	ovary
3	chr1:47639400-47641600	Enhancers	Fetal Lung	lung
4	chr1:47640000-47644600	Weak transcription	Right Atrium	heart
5	chr1:47640400-47641200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:47640600-47641000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr1:47640600-47641200	Enhancers	Fetal Stomach	stomach
8	chr1:47640600-47641400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:47640600-47641400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:47640600-47641400	Enhancers	Hela-S3	cervix
11	chr1:47640600-47641600	Enhancers	Fetal Brain Female	brain
12	chr1:47640600-47641600	Enhancers	NHEK	skin
13	chr1:47640600-47641800	Enhancers	Brain Hippocampus Middle	brain
14	chr1:47640600-47641800	Enhancers	HMEC	breast
15	chr1:47640600-47643000	Enhancers	HepG2	liver
16	chr1:47640800-47641000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
17	chr1:47640800-47641000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:47640800-47641000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:47640800-47641000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:47640800-47641000	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr1:47640800-47641200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:47640800-47641200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr1:47640800-47641200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:47640800-47641200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr1:47640800-47641200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:47640800-47641200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:47640800-47641200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:47640800-47641200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:47640800-47641200	Enhancers	Liver	Liver
30	chr1:47640800-47641200	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr1:47640800-47641200	Enhancers	Brain Substantia Nigra	brain
32	chr1:47640800-47641200	Active TSS	Fetal Kidney	kidney
33	chr1:47640800-47641200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr1:47640800-47641200	Active TSS	A549	lung
35	chr1:47640800-47641400	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr1:47640800-47641400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:47640800-47641600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:47640800-47641600	Enhancers	K562	blood

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