Variant report

Variant	rs542464774
Chromosome Location	chr5:179335069-179335070
allele	G/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	JUND	chr5:179334741-179335163	K562	blood:	n/a	n/a
2	MXI1	chr5:179334649-179335410	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr5:179334536-179335185	Gliobla	brain:	n/a	n/a
4	MAZ	chr5:179334710-179335174	K562	blood:	n/a	chr5:179335010-179335020 chr5:179334977-179334986
5	POLR2A	chr5:179334634-179335178	HEK293	kidney:	n/a	n/a
6	TAF1	chr5:179334674-179335077	K562	blood:	n/a	n/a
7	POLR2A	chr5:179334958-179335258	U87	brain:	n/a	n/a
8	MAX	chr5:179334684-179335206	K562	blood:	n/a	chr5:179335010-179335020 chr5:179334977-179334986
9	BHLHE40	chr5:179334707-179335146	K562	blood:	n/a	n/a
10	POLR2A	chr5:179334647-179335241	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr5:179334506-179335268	HUVEC	blood vessel:	n/a	n/a
12	CREB1	chr5:179334672-179335193	A549	lung:	n/a	n/a
13	CTCF	chr5:179334806-179335129	Pancreas_OC	pancreas:	n/a	chr5:179334949-179334962 chr5:179334947-179334965 chr5:179334950-179334960 chr5:179334948-179334964 chr5:179334953-179334962 chr5:179334949-179334962
14	CTCF	chr5:179334665-179335122	K562	blood:	n/a	chr5:179334949-179334962 chr5:179334947-179334965 chr5:179334950-179334960 chr5:179334948-179334964 chr5:179334953-179334962 chr5:179334949-179334962
15	YY1	chr5:179334864-179335192	GM12891	blood:	n/a	chr5:179334997-179335006 chr5:179334865-179334874 chr5:179334994-179335003 chr5:179334866-179334880
16	MYC	chr5:179334681-179335236	NB4	blood:	n/a	chr5:179335010-179335020 chr5:179334977-179334986
17	CTCF	chr5:179334809-179335122	A549	lung:	n/a	chr5:179334949-179334962 chr5:179334947-179334965 chr5:179334950-179334960 chr5:179334948-179334964 chr5:179334953-179334962 chr5:179334949-179334962
18	SMARCB1	chr5:179334725-179335288	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr5:179334960-179335110	WERI-Rb-1	eye:	n/a	n/a
20	POLR2A	chr5:179334641-179335276	GM12892	blood:	n/a	n/a
21	ZNF384	chr5:179335018-179335276	K562	blood:	n/a	n/a
22	POLR2A	chr5:179334657-179335373	SK-N-MC	brain:	n/a	n/a
23	POU2F2	chr5:179334626-179335204	GM12878	blood:	n/a	chr5:179335002-179335014
24	MTA3	chr5:179334939-179335339	GM12878	blood:	n/a	n/a
25	CTCF	chr5:179334920-179335070	GM12865	blood:	n/a	chr5:179334949-179334962 chr5:179334947-179334965 chr5:179334950-179334960 chr5:179334948-179334964 chr5:179334953-179334962 chr5:179334949-179334962
26	POLR2A	chr5:179334670-179335107	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr5:179334866-179335092	GM13976	blood:	n/a	chr5:179334949-179334962 chr5:179334947-179334965 chr5:179334950-179334960 chr5:179334948-179334964 chr5:179334953-179334962 chr5:179334949-179334962
28	HCFC1	chr5:179334632-179335435	Hela-S3	cervix:	n/a	n/a
29	SMC3	chr5:179334843-179335235	Hela-S3	cervix:	n/a	chr5:179334949-179334959 chr5:179334949-179334963
30	MXI1	chr5:179334653-179335167	GM12878	blood:	n/a	n/a
31	TAF1	chr5:179334576-179335191	HepG2	liver:	n/a	n/a
32	HEY1	chr5:179334959-179335184	HepG2	liver:	n/a	n/a
33	CTCF	chr5:179334710-179335116	Kidney_OC	kidney:	n/a	chr5:179334949-179334962 chr5:179334947-179334965 chr5:179334950-179334960 chr5:179334948-179334964 chr5:179334953-179334962 chr5:179334949-179334962
34	FOXP2	chr5:179334680-179335128	PFSK-1	brain:	n/a	n/a
35	CTCF	chr5:179334940-179335090	HMF	breast:	n/a	chr5:179334949-179334962 chr5:179334947-179334965 chr5:179334950-179334960 chr5:179334948-179334964 chr5:179334953-179334962 chr5:179334949-179334962
36	POLR2A	chr5:179334617-179335095	K562	blood:	n/a	n/a
37	CTCF	chr5:179334790-179335125	HepG2	liver:	n/a	chr5:179334949-179334962 chr5:179334947-179334965 chr5:179334950-179334960 chr5:179334948-179334964 chr5:179334953-179334962 chr5:179334949-179334962
38	MAX	chr5:179334609-179335203	H1-hESC	embryonic stem cell:	n/a	chr5:179335010-179335020 chr5:179334977-179334986
39	POLR2A	chr5:179334638-179335215	GM10847	blood:	n/a	n/a
40	POLR2A	chr5:179334612-179335104	A549	lung:	n/a	n/a
41	POLR2A	chr5:179334594-179335341	HepG2	liver:	n/a	n/a
42	CTCF	chr5:179334920-179335070	GM12864	blood:	n/a	chr5:179334949-179334962 chr5:179334947-179334965 chr5:179334950-179334960 chr5:179334948-179334964 chr5:179334953-179334962 chr5:179334949-179334962
43	MAX	chr5:179334632-179335228	SK-N-SH	brain:	n/a	chr5:179335010-179335020 chr5:179334977-179334986
44	EGR1	chr5:179334769-179335283	MCF-7	breast:	n/a	chr5:179334998-179335011 chr5:179334998-179335008 chr5:179334997-179335012 chr5:179334998-179335011
45	POLR2A	chr5:179334629-179335306	H1-neurons	neurons:	n/a	n/a
46	CTCF	chr5:179334770-179335178	K562	blood:	n/a	chr5:179334949-179334962 chr5:179334947-179334965 chr5:179334950-179334960 chr5:179334948-179334964 chr5:179334953-179334962 chr5:179334949-179334962
47	MAX	chr5:179334564-179335356	HCT-116	colon:	n/a	chr5:179335010-179335020 chr5:179334977-179334986
48	POLR2A	chr5:179334964-179335252	U87	brain:	n/a	n/a
49	POLR2A	chr5:179334971-179335169	HepG2	liver:	n/a	n/a
50	POLR2A	chr5:179334528-179335219	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:179159153..179161624-chr5:179334257..179336629,3	MCF-7	breast:
2	chr5:179263833..179265410-chr5:179333194..179335753,2	K562	blood:
3	chr5:179227831..179231343-chr5:179333679..179336075,3	MCF-7	breast:
4	chr5:179284415..179287305-chr5:179333085..179336223,5	MCF-7	breast:
5	chr5:179231951..179234998-chr5:179332268..179335922,5	MCF-7	breast:
6	chr5:179333483..179336281-chr5:179498634..179500565,2	K562	blood:
7	chr5:179247476..179249200-chr5:179334152..179336100,2	K562	blood:
8	chr5:179246876..179249284-chr5:179332914..179335716,2	MCF-7	breast:
9	chr19:10305209..10305779-chr5:179334660..179335178,2	HCT-116	colon:
10	chr5:179126146..179127712-chr5:179333460..179335651,2	MCF-7	breast:
11	chr5:179242122..179245901-chr5:179334184..179337544,4	K562	blood:
12	chr5:179333483..179336002-chr5:179498536..179500364,3	K562	blood:
13	chr5:179332761..179336643-chr5:179497180..179500753,5	MCF-7	breast:
14	chr5:179297068..179300274-chr5:179333410..179335141,3	MCF-7	breast:
15	chr5:179319773..179322794-chr5:179334864..179337112,3	MCF-7	breast:
16	chr5:179247476..179250281-chr5:179333231..179336105,3	K562	blood:
17	chr5:179334236..179335161-chr6:31587804..31588782,2	Hela-S3	cervix:
18	chr5:179049837..179051764-chr5:179334057..179336513,2	MCF-7	breast:

Variant related genes	Relation type
TBC1D9B	TF binding region
ENSG00000161021	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000130816	Chromatin interaction
ENSG00000113269	Chromatin interaction
ENSG00000197226	Chromatin interaction
ENSG00000245317	Chromatin interaction
ENSG00000161010	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000161013	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
3	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
4	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
6	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
7	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
8	esv3357023	chr5:179333371-179336219	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
9	esv3375542	chr5:179333746-179336144	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179333400-179335400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr5:179333600-179335200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr5:179333600-179335400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr5:179333800-179335200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr5:179333800-179335400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr5:179333800-179335400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:179333800-179335400	Active TSS	Fetal Kidney	kidney
8	chr5:179333800-179335400	Active TSS	HSMM	muscle
9	chr5:179333800-179335600	Active TSS	Osteobl	bone
10	chr5:179333800-179335800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:179333800-179335800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:179334000-179335200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:179334000-179335200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:179334000-179335200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:179334000-179335200	Active TSS	Aorta	Aorta
16	chr5:179334000-179335400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:179334000-179335400	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr5:179334000-179335400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr5:179334000-179335400	Active TSS	Fetal Intestine Large	intestine
20	chr5:179334000-179335400	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr5:179334000-179335400	Active TSS	A549	lung
22	chr5:179334000-179335400	Active TSS	NHEK	skin
23	chr5:179334000-179335600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:179334000-179335600	Active TSS	HepG2	liver
25	chr5:179334200-179335200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:179334200-179335200	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr5:179334200-179335200	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr5:179334200-179335200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr5:179334200-179335200	Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr5:179334200-179335200	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr5:179334200-179335200	Active TSS	Muscle Satellite Cultured Cells	--
32	chr5:179334200-179335200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:179334200-179335200	Weak transcription	Fetal Heart	heart
34	chr5:179334200-179335200	Active TSS	Gastric	stomach
35	chr5:179334200-179335200	Active TSS	Psoas Muscle	Psoas
36	chr5:179334200-179335200	Active TSS	NH-A	brain
37	chr5:179334200-179335400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr5:179334200-179335400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:179334200-179335400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr5:179334200-179335400	Active TSS	Brain Angular Gyrus	brain
41	chr5:179334200-179335400	Active TSS	Brain Anterior Caudate	brain
42	chr5:179334200-179335400	Active TSS	Brain Cingulate Gyrus	brain
43	chr5:179334200-179335400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr5:179334200-179335400	Active TSS	Colon Smooth Muscle	Colon
45	chr5:179334200-179335400	Active TSS	Esophagus	oesophagus
46	chr5:179334200-179335400	Active TSS	Left Ventricle	heart
47	chr5:179334200-179335400	Active TSS	Lung	lung
48	chr5:179334200-179335400	Active TSS	Ovary	ovary
49	chr5:179334200-179335400	Active TSS	Placenta Amnion	Placenta Amnion
50	chr5:179334200-179335400	Active TSS	Right Atrium	heart

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