Variant report

Variant	rs567106327
Chromosome Location	chr5:167718803-167718804
allele	A/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	CTCF	chr5:167718471-167718838	Pancreas_OC	pancreas:	n/a	chr5:167718555-167718565 chr5:167718551-167718567 chr5:167718553-167718566 chr5:167718553-167718566
2	E2F4	chr5:167718322-167718829	MCF10A-Er-Src	breast:	n/a	chr5:167718535-167718545 chr5:167718625-167718635
3	ZBTB7A	chr5:167718316-167718884	ECC-1	luminal epithelium:	n/a	chr5:167718558-167718567
4	MAZ	chr5:167718166-167719988	Hela-S3	cervix:	n/a	chr5:167718916-167718925
5	MAX	chr5:167718233-167719174	MCF-7	breast:	n/a	chr5:167718916-167718925
6	RAD21	chr5:167718301-167718844	H1-hESC	embryonic stem cell:	n/a	chr5:167718552-167718566
7	CTCF	chr5:167718435-167718891	GM12891	blood:	n/a	chr5:167718555-167718565 chr5:167718551-167718567 chr5:167718553-167718566 chr5:167718553-167718566
8	POLR2A	chr5:167718560-167719014	GM12878	blood:	n/a	n/a
9	RAD21	chr5:167718594-167718846	GM12878	blood:	n/a	n/a
10	RAD21	chr5:167718371-167718821	HepG2	liver:	n/a	chr5:167718552-167718566
11	CHD2	chr5:167718128-167719602	Hela-S3	cervix:	n/a	chr5:167719438-167719448 chr5:167719413-167719423 chr5:167718942-167718952
12	POLR2A	chr5:167718471-167719056	GM15510	blood:	n/a	n/a
13	POLR2A	chr5:167718594-167718977	H1-neurons	neurons:	n/a	n/a
14	TBP	chr5:167718175-167719107	H1-hESC	embryonic stem cell:	n/a	n/a
15	YY1	chr5:167718294-167718812	H1-hESC	embryonic stem cell:	n/a	chr5:167718656-167718667
16	POLR2A	chr5:167718315-167718993	A549	lung:	n/a	n/a
17	POLR2A	chr5:167718216-167719568	HepG2	liver:	n/a	n/a
18	CTCF	chr5:167718680-167718830	GM12873	blood:	n/a	n/a
19	MAX	chr5:167718501-167718809	A549	lung:	n/a	n/a
20	TAF1	chr5:167718398-167718808	A549	lung:	n/a	n/a
21	CTCF	chr5:167718709-167718826	Gliobla	brain:	n/a	n/a
22	POLR2A	chr5:167718332-167718845	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr5:167718388-167718883	GM12878	blood:	n/a	chr5:167718555-167718565 chr5:167718551-167718567 chr5:167718553-167718566 chr5:167718553-167718566
24	SMARCB1	chr5:167718239-167720226	Hela-S3	cervix:	n/a	n/a
25	PML	chr5:167718146-167718870	MCF-7	breast:	n/a	n/a
26	MAZ	chr5:167718080-167720173	IMR90	lung:	n/a	chr5:167718916-167718925
27	NR3C1	chr5:167718337-167719148	A549	lung:	n/a	n/a
28	CTCF	chr5:167718442-167718836	H1-hESC	embryonic stem cell:	n/a	chr5:167718555-167718565 chr5:167718551-167718567 chr5:167718553-167718566 chr5:167718553-167718566
29	TCF12	chr5:167718186-167718843	ECC-1	luminal epithelium:	n/a	chr5:167718686-167718693
30	PAX5	chr5:167718552-167718822	GM12878	blood:	n/a	chr5:167718727-167718746
31	POLR2A	chr5:167718480-167718827	SK-N-SH	brain:	n/a	n/a
32	ZEB1	chr5:167718084-167718999	HepG2	liver:	n/a	chr5:167718485-167718492
33	RAD21	chr5:167718431-167719582	IMR90	lung:	n/a	chr5:167718917-167718929 chr5:167718552-167718566
34	YY1	chr5:167718287-167718803	HCT-116	colon:	n/a	chr5:167718656-167718667
35	POLR2A	chr5:167718353-167719008	Raji	blood:	n/a	n/a
36	CTCF	chr5:167718469-167718831	MCF-7	breast:	n/a	chr5:167718555-167718565 chr5:167718551-167718567 chr5:167718553-167718566 chr5:167718553-167718566
37	MAX	chr5:167718403-167719878	H1-hESC	embryonic stem cell:	n/a	chr5:167718916-167718925
38	E2F6	chr5:167718791-167718978	K562	blood:	n/a	chr5:167718937-167718947 chr5:167718939-167718951 chr5:167718956-167718966
39	RAD21	chr5:167718325-167719017	ECC-1	luminal epithelium:	n/a	chr5:167718917-167718929 chr5:167718552-167718566
40	POLR2A	chr5:167718210-167718975	ECC-1	luminal epithelium:	n/a	n/a
41	RUNX3	chr5:167718315-167718840	GM12878	blood:	n/a	n/a
42	POLR2A	chr5:167718106-167720051	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr5:167718426-167718884	MCF-7	breast:	n/a	chr5:167718555-167718565 chr5:167718551-167718567 chr5:167718553-167718566 chr5:167718553-167718566
44	POLR2A	chr5:167718238-167718972	Hela-S3	cervix:	n/a	n/a
45	NANOG	chr5:167718570-167718823	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr5:167718243-167719565	GM18505	blood:	n/a	n/a
47	CTCF	chr5:167718434-167718875	GM12892	blood:	n/a	chr5:167718555-167718565 chr5:167718551-167718567 chr5:167718553-167718566 chr5:167718553-167718566
48	SP1	chr5:167717987-167718858	A549	lung:	n/a	chr5:167718605-167718614 chr5:167718460-167718472 chr5:167718461-167718475 chr5:167718637-167718649
49	CTCF	chr5:167718444-167718857	MCF-7	breast:	n/a	chr5:167718555-167718565 chr5:167718551-167718567 chr5:167718553-167718566 chr5:167718553-167718566
50	CTCF	chr5:167718294-167718870	H1-hESC	embryonic stem cell:	n/a	chr5:167718555-167718565 chr5:167718551-167718567 chr5:167718553-167718566 chr5:167718553-167718566

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:167715928..167721153-chr5:167739241..167745348,16	MCF-7	breast:

Variant related genes	Relation type
WWC1	TF binding region
ENSG00000113645	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534607	chr5:167661667-168454396	Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv949154	chr5:167691208-168323234	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv3366386	chr5:167717474-167720872	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3397146	chr5:167717924-167720922	Enhancers Genic enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167717800-167719200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr5:167717800-167719400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr5:167717800-167720000	Active TSS	H1 Cell Line	embryonic stem cell
4	chr5:167717800-167720400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr5:167717800-167720800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr5:167718000-167719200	Enhancers	Primary B cells from peripheral blood	blood
7	chr5:167718000-167719400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:167718000-167719800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr5:167718000-167719800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:167718000-167719800	Active TSS	Esophagus	oesophagus
11	chr5:167718000-167720000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:167718000-167720400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:167718000-167720600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr5:167718200-167719200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:167718200-167719400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
16	chr5:167718200-167719400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:167718200-167719400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:167718200-167719400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:167718200-167719600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr5:167718200-167719600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:167718200-167719800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:167718200-167719800	Active TSS	Pancreas	Pancrea
23	chr5:167718200-167719800	Active TSS	Rectal Smooth Muscle	rectum
24	chr5:167718200-167719800	Active TSS	HSMM	muscle
25	chr5:167718200-167719800	Active TSS	NHLF	lung
26	chr5:167718200-167720000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:167718200-167720000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:167718200-167720000	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr5:167718200-167720000	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr5:167718200-167720000	Active TSS	Fetal Brain Female	brain
31	chr5:167718200-167720000	Active TSS	HMEC	breast
32	chr5:167718200-167720200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:167718200-167720200	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr5:167718200-167720200	Active TSS	A549	lung
35	chr5:167718200-167720400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:167718200-167720400	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr5:167718200-167720400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:167718400-167719000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:167718400-167719000	Active TSS	HSMMtube	muscle
40	chr5:167718400-167719200	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr5:167718400-167719200	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
42	chr5:167718400-167719200	Bivalent/Poised TSS	Psoas Muscle	Psoas
43	chr5:167718400-167719200	Active TSS	NHDF-Ad	bronchial
44	chr5:167718400-167719400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:167718400-167719400	Active TSS	Ovary	ovary
46	chr5:167718400-167719400	Active TSS	Placenta Amnion	Placenta Amnion
47	chr5:167718400-167719600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr5:167718400-167719600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:167718400-167719600	Active TSS	Right Atrium	heart
50	chr5:167718400-167719600	Bivalent/Poised TSS	Thymus	Thymus

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