Variant report

Variant	rs563698365
Chromosome Location	chr1:161162628-161162629
allele	C/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	RCOR1	chr1:161162314-161162646	K562	blood:	n/a	n/a
2	SMC3	chr1:161162256-161162752	Hela-S3	cervix:	n/a	chr1:161162468-161162482
3	RAD21	chr1:161162253-161162650	H1-hESC	embryonic stem cell:	n/a	chr1:161162467-161162486 chr1:161162470-161162483 chr1:161162472-161162484
4	CTCF	chr1:161162244-161162712	IMR90	lung:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
5	CTCF	chr1:161161790-161162896	SK-N-SH	brain:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
6	RAD21	chr1:161162234-161162683	ECC-1	luminal epithelium:	n/a	chr1:161162467-161162486 chr1:161162470-161162483 chr1:161162472-161162484
7	UBTF	chr1:161162374-161162636	K562	blood:	n/a	n/a
8	CTCF	chr1:161162327-161162635	GM19240	blood:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
9	RAD21	chr1:161162306-161162748	MCF-7	breast:	n/a	chr1:161162467-161162486 chr1:161162470-161162483 chr1:161162472-161162484
10	RAD21	chr1:161162270-161162657	K562	blood:	n/a	chr1:161162467-161162486 chr1:161162470-161162483 chr1:161162472-161162484
11	RAD21	chr1:161162284-161162735	SK-N-SH_RA	brain:	n/a	chr1:161162467-161162486 chr1:161162470-161162483 chr1:161162472-161162484
12	RAD21	chr1:161162265-161162712	GM12878	blood:	n/a	chr1:161162467-161162486 chr1:161162470-161162483 chr1:161162472-161162484
13	MAZ	chr1:161162281-161162659	K562	blood:	n/a	n/a
14	CTCF	chr1:161162257-161162647	K562	blood:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
15	SMC3	chr1:161162296-161162673	K562	blood:	n/a	chr1:161162468-161162482
16	USF2	chr1:161162370-161162643	H1-hESC	embryonic stem cell:	n/a	n/a
17	ZNF384	chr1:161162398-161162645	K562	blood:	n/a	n/a
18	MAX	chr1:161162322-161162644	K562	blood:	n/a	n/a
19	RAD21	chr1:161162289-161162648	SK-N-SH_RA	brain:	n/a	chr1:161162467-161162486 chr1:161162470-161162483 chr1:161162472-161162484
20	WRNIP1	chr1:161162300-161162635	GM12878	blood:	n/a	n/a
21	CTCF	chr1:161162620-161162770	A549	lung:	n/a	n/a
22	RAD21	chr1:161162231-161162714	A549	lung:	n/a	chr1:161162467-161162486 chr1:161162470-161162483 chr1:161162472-161162484
23	RAD21	chr1:161162009-161162835	HCT-116	colon:	n/a	chr1:161162467-161162486 chr1:161162470-161162483 chr1:161162472-161162484
24	RCOR1	chr1:161162315-161162635	Hela-S3	cervix:	n/a	n/a
25	MAZ	chr1:161162342-161162644	HepG2	liver:	n/a	n/a
26	RAD21	chr1:161162256-161162684	Hela-S3	cervix:	n/a	chr1:161162467-161162486 chr1:161162470-161162483 chr1:161162472-161162484
27	CTCF	chr1:161162257-161162677	A549	lung:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
28	MAFF	chr1:161162360-161162643	HepG2	liver:	n/a	n/a
29	MAFK	chr1:161162309-161162636	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr1:161162220-161162701	T-47D	breast:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
31	RAD21	chr1:161161897-161163099	SK-N-SH	brain:	n/a	chr1:161162467-161162486 chr1:161162470-161162483 chr1:161162472-161162484
32	MAX	chr1:161162421-161162639	K562	blood:	n/a	n/a
33	REST	chr1:161162147-161163100	H1-neurons	neurons:	n/a	n/a
34	NRF1	chr1:161162317-161162643	GM12878	blood:	n/a	n/a
35	UBTF	chr1:161162374-161162638	K562	blood:	n/a	n/a
36	MAZ	chr1:161162295-161162692	GM12878	blood:	n/a	n/a
37	MAFK	chr1:161162431-161162646	HepG2	liver:	n/a	n/a
38	TEAD4	chr1:161162304-161162651	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr1:161162312-161162655	A549	lung:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
40	MXI1	chr1:161162317-161162638	HepG2	liver:	n/a	n/a
41	ZNF143	chr1:161162303-161162658	H1-hESC	embryonic stem cell:	n/a	n/a
42	RAD21	chr1:161162281-161162653	GM12878	blood:	n/a	chr1:161162467-161162486 chr1:161162470-161162483 chr1:161162472-161162484
43	BRCA1	chr1:161162422-161162652	H1-hESC	embryonic stem cell:	n/a	n/a
44	TEAD4	chr1:161162321-161162724	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr1:161162331-161162808	H1-neurons	neurons:	n/a	n/a
46	SMC3	chr1:161161869-161162893	SK-N-SH	brain:	n/a	chr1:161162468-161162482
47	CTCF	chr1:161162203-161162867	HCT-116	colon:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
48	CTCF	chr1:161162247-161162634	K562	blood:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
49	CTCF	chr1:161162229-161162796	MCF-7	breast:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
50	RFX5	chr1:161162328-161162651	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:161157327..161160707-chr1:161160939..161164830,4	K562	blood:
2	chr1:161160904..161162773-chr1:161163879..161166104,2	MCF-7	breast:
3	chr1:161161386..161164009-chr1:161188467..161191186,2	MCF-7	breast:
4	chr1:161162284..161164231-chr1:161350285..161353157,2	MCF-7	breast:
5	chr1:161162448..161162950-chr1:161179543..161180226,2	K562	blood:
6	chr1:161162435..161162964-chr1:161195082..161195632,2	K562	blood:
7	chr1:161152355..161156919-chr1:161160220..161163172,6	K562	blood:
8	chr1:161162124..161162789-chr1:161260973..161261767,2	MCF-7	breast:
9	chr1:161162295..161163089-chr1:161179309..161179869,2	MCF-7	breast:
10	chr1:161162532..161167192-chr1:161195273..161197784,4	K562	blood:
11	chr1:161159866..161163748-chr1:161166740..161171576,6	MCF-7	breast:
12	chr1:161160858..161163554-chr1:161335884..161337971,2	MCF-7	breast:
13	chr1:161161843..161164361-chr1:161165449..161168112,2	MCF-7	breast:
14	chr1:161162222..161163044-chr1:161179334..161180230,2	MCF-7	breast:
15	chr1:161162001..161162966-chr1:161195045..161195904,3	MCF-7	breast:
16	chr1:161160427..161162959-chr1:161172142..161173737,2	MCF-7	breast:
17	chr1:161159836..161162629-chr1:161171704..161173335,2	MCF-7	breast:
18	chr1:161161591..161163343-chr1:161282376..161284544,2	K562	blood:

Variant related genes	Relation type
NDUFS2	TF binding region
ENSG00000158864	Chromatin interaction
ENSG00000158882	Chromatin interaction
ENSG00000188931	Chromatin interaction
ENSG00000143252	Chromatin interaction
ENSG00000268387	Chromatin interaction
ENSG00000158859	Chromatin interaction
ENSG00000235477	Chromatin interaction
ENSG00000263548	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	esv32799	chr1:161161838-161171520	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161147800-161167600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:161148200-161167400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:161148400-161165000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:161153200-161166000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:161153200-161167000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:161156000-161167600	Weak transcription	Fetal Heart	heart
7	chr1:161156200-161163000	Weak transcription	Thymus	Thymus
8	chr1:161156200-161163200	Weak transcription	NHDF-Ad	bronchial
9	chr1:161156200-161166200	Weak transcription	Fetal Lung	lung
10	chr1:161156400-161163600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:161156400-161166000	Weak transcription	Esophagus	oesophagus
12	chr1:161156600-161165200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:161157600-161164400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:161157600-161165000	Weak transcription	Right Atrium	heart
15	chr1:161157600-161167600	Weak transcription	Small Intestine	intestine
16	chr1:161158800-161166000	Weak transcription	Pancreas	Pancrea
17	chr1:161160200-161163000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:161160200-161163800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr1:161160200-161167000	Enhancers	Primary B cells from peripheral blood	blood
20	chr1:161160200-161167400	Enhancers	Primary T cells fromperipheralblood	blood
21	chr1:161160400-161164000	Strong transcription	NHLF	lung
22	chr1:161160400-161164400	Genic enhancers	Brain Hippocampus Middle	brain
23	chr1:161160400-161165400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr1:161160600-161163000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr1:161160600-161164000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:161160600-161165800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr1:161160800-161166800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:161161000-161162800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:161161000-161163400	Genic enhancers	Brain Cingulate Gyrus	brain
30	chr1:161161000-161165400	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr1:161161000-161166600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:161161400-161162800	Strong transcription	Right Ventricle	heart
33	chr1:161161400-161162800	Strong transcription	HSMM	muscle
34	chr1:161161400-161163000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:161161400-161163000	Weak transcription	Lung	lung
36	chr1:161161400-161165200	Genic enhancers	Brain Anterior Caudate	brain
37	chr1:161161600-161163000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:161161600-161163000	Weak transcription	Ovary	ovary
39	chr1:161161600-161163200	Genic enhancers	Adipose Nuclei	Adipose
40	chr1:161161600-161166000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:161161800-161162800	Weak transcription	Gastric	stomach
42	chr1:161161800-161163200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:161161800-161163200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr1:161161800-161163600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr1:161161800-161163600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr1:161161800-161164600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:161161800-161166000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:161161800-161166200	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr1:161161800-161166400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr1:161161800-161166400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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