Variant report

Variant	rs577242834
Chromosome Location	chr5:60626276-60626277
allele	C/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	REST	chr5:60625830-60631210	H1-neurons	neurons:	n/a	chr5:60629395-60629408 chr5:60626655-60626668
2	POLR2A	chr5:60626174-60628500	HUVEC	blood vessel:	n/a	n/a
3	GATA3	chr5:60626267-60626644	T-47D	breast:	n/a	n/a
4	TCF7L2	chr5:60626088-60628038	Hela-S3	cervix:	n/a	chr5:60627651-60627660 chr5:60627648-60627662
5	HA-E2F1	chr5:60626203-60627569	MCF-7	breast:	n/a	chr5:60626897-60626911 chr5:60626705-60626715 chr5:60627410-60627419
6	TCF7L2	chr5:60626209-60626621	PANC-1	pancreas:	n/a	n/a
7	TFAP2A	chr5:60626263-60627697	Hela-S3	cervix:	n/a	chr5:60627504-60627516 chr5:60626884-60626896 chr5:60627076-60627084 chr5:60626699-60626711 chr5:60627075-60627087 chr5:60626699-60626711
8	FOS	chr5:60625382-60626284	HUVEC	blood vessel:	n/a	chr5:60625807-60625818
9	TCF12	chr5:60626122-60628395	ECC-1	luminal epithelium:	n/a	chr5:60627382-60627392
10	PRDM1	chr5:60626272-60626537	Hela-S3	cervix:	n/a	n/a
11	SRF	chr5:60626025-60628448	HCT-116	colon:	n/a	chr5:60627972-60627986 chr5:60627990-60628005 chr5:60627970-60627988 chr5:60627972-60627990 chr5:60627974-60627987 chr5:60627971-60627989 chr5:60627550-60627560 chr5:60627975-60627992 chr5:60627985-60627995 chr5:60627972-60627989
12	MAX	chr5:60626103-60628180	SK-N-SH	brain:	n/a	chr5:60627550-60627560 chr5:60627234-60627243 chr5:60627832-60627842
13	NFIC	chr5:60626214-60628196	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr5:60625558-60630285	Hela-S3	cervix:	n/a	n/a
15	CHD2	chr5:60626205-60628374	Hela-S3	cervix:	n/a	chr5:60627826-60627836
16	MAFK	chr5:60625724-60627683	Hela-S3	cervix:	n/a	chr5:60626128-60626143
17	GATA2	chr5:60626135-60627649	SH-SY5Y	brain:	n/a	n/a
18	POLR2A	chr5:60626147-60626665	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr5:60625341-60628382	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr5:60626057-60626735	SK-N-MC	brain:	n/a	n/a
21	ELK4	chr5:60626138-60626570	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr5:60626251-60626607	U87	brain:	n/a	n/a
23	GATA2	chr5:60625552-60626658	HUVEC	blood vessel:	n/a	n/a
24	FOXM1	chr5:60626040-60626808	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr5:60625918-60628469	HUVEC	blood vessel:	n/a	n/a
26	TFAP2C	chr5:60626127-60627712	Hela-S3	cervix:	n/a	chr5:60627488-60627503
27	MXI1	chr5:60625150-60628551	IMR90	lung:	n/a	n/a
28	MAZ	chr5:60626233-60628172	GM12878	blood:	n/a	chr5:60627550-60627560 chr5:60627234-60627243 chr5:60627832-60627842
29	POLR2A	chr5:60626250-60628305	HEK293	kidney:	n/a	n/a
30	RAD21	chr5:60626241-60627753	A549	lung:	n/a	chr5:60627693-60627703 chr5:60627693-60627705
31	GATA3	chr5:60626129-60627181	MCF-7	breast:	n/a	n/a
32	RCOR1	chr5:60623071-60628252	IMR90	lung:	n/a	n/a
33	CHD1	chr5:60623202-60631624	IMR90	lung:	n/a	chr5:60629730-60629740 chr5:60629024-60629034 chr5:60629683-60629693 chr5:60629116-60629123 chr5:60629352-60629362 chr5:60627826-60627836
34	STAT3	chr5:60626262-60626447	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr5:60626228-60628205	Hela-S3	cervix:	n/a	n/a
36	MAX	chr5:60626088-60628204	A549	lung:	n/a	chr5:60627550-60627560 chr5:60627234-60627243 chr5:60627832-60627842
37	HDAC2	chr5:60626246-60628246	MCF-7	breast:	n/a	n/a
38	POLR2A	chr5:60626226-60626533	K562	blood:	n/a	n/a
39	SIN3AK20	chr5:60626157-60628182	PANC-1	pancreas:	n/a	n/a
40	SP1	chr5:60626155-60628279	A549	lung:	n/a	chr5:60627549-60627561 chr5:60627766-60627780 chr5:60627896-60627905 chr5:60627527-60627536 chr5:60627929-60627938 chr5:60627895-60627904 chr5:60627528-60627537 chr5:60627766-60627776 chr5:60627826-60627838 chr5:60627928-60627940 chr5:60627549-60627561 chr5:60627828-60627837 chr5:60627527-60627537 chr5:60627930-60627939 chr5:60627766-60627775 chr5:60627551-60627560 chr5:60627895-60627904 chr5:60627523-60627537 chr5:60627895-60627905 chr5:60627767-60627776 chr5:60627894-60627906 chr5:60627826-60627838 chr5:60627765-60627777 chr5:60627895-60627905 chr5:60627928-60627940 chr5:60627765-60627777 chr5:60627550-60627560 chr5:60627894-60627906 chr5:60627527-60627537 chr5:60627827-60627836 chr5:60627550-60627559 chr5:60627526-60627538 chr5:60627929-60627938 chr5:60627929-60627939
41	GATA1	chr5:60626162-60627065	PBDE	blood:	n/a	n/a
42	TCF7L2	chr5:60626264-60626691	HEK293	kidney:	n/a	n/a
43	MYC	chr5:60626059-60628148	A549	lung:	n/a	chr5:60627550-60627560 chr5:60627234-60627243 chr5:60627832-60627842
44	POLR2A	chr5:60626128-60626732	PFSK-1	brain:	n/a	n/a
45	ZNF263	chr5:60626258-60627487	HEK293-T-REx	kidney:	n/a	chr5:60626476-60626497
46	POLR2A	chr5:60626154-60629905	H1-neurons	neurons:	n/a	n/a
47	RAD21	chr5:60626085-60628171	SK-N-SH_RA	brain:	n/a	chr5:60627693-60627703 chr5:60627693-60627705
48	CTCF	chr5:60626140-60626290	HRE	kidney:	n/a	n/a
49	MAX	chr5:60626065-60628375	HCT-116	colon:	n/a	chr5:60627550-60627560 chr5:60627234-60627243 chr5:60627832-60627842
50	SIN3AK20	chr5:60626082-60628487	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:60454421..60471345-chr5:60622342..60633215,36	MCF-7	breast:
2	chr5:60454193..60465680-chr5:60622262..60629761,38	MCF-7	breast:
3	chr5:60626139..60628076-chr5:60895124..60897725,2	MCF-7	breast:
4	chr5:59993591..59996148-chr5:60625919..60628980,4	K562	blood:
5	chr5:60469553..60471380-chr5:60625380..60627759,2	MCF-7	breast:
6	chr12:53845725..53846383-chr5:60625600..60626600,2	Hela-S3	cervix:
7	chr5:60546830..60548400-chr5:60625408..60627597,2	MCF-7	breast:
8	chr5:60353410..60356120-chr5:60624338..60627119,3	MCF-7	breast:
9	chr5:60554941..60557365-chr5:60625053..60627690,3	MCF-7	breast:
10	chr5:60626093..60627678-chr5:60926976..60929648,2	MCF-7	breast:
11	chr5:60605123..60607843-chr5:60623875..60626572,3	MCF-7	breast:

Variant related genes	Relation type
ZSWIM6	TF binding region
ENSG00000197111	Chromatin interaction
ENSG00000251279	Chromatin interaction
ENSG00000188725	Chromatin interaction
ENSG00000035499	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv823089	chr5:60589501-60669903	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv19714	chr5:60625377-60629756	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv3471610	chr5:60625845-60630243	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv3471611	chr5:60625845-60630243	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv3502265	chr5:60626270-60630343	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv3502266	chr5:60626270-60630343	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60623800-60626400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr5:60624400-60626600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
3	chr5:60625000-60626800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr5:60625200-60626600	Flanking Active TSS	HUVEC	blood vessel
5	chr5:60625200-60630800	Active TSS	Colonic Mucosa	Colon
6	chr5:60625400-60626400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
7	chr5:60625400-60626400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
8	chr5:60625400-60626400	Flanking Active TSS	NH-A	brain
9	chr5:60625400-60631000	Active TSS	Brain Hippocampus Middle	brain
10	chr5:60625600-60626400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr5:60625600-60626400	Flanking Active TSS	Fetal Intestine Small	intestine
12	chr5:60625600-60626600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr5:60625600-60626600	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr5:60625600-60626800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:60625600-60630600	Active TSS	Colon Smooth Muscle	Colon
16	chr5:60625600-60630800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:60625600-60630800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:60625600-60631000	Active TSS	Brain Anterior Caudate	brain
19	chr5:60625800-60626400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:60625800-60626600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:60625800-60626600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:60625800-60626600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:60625800-60626600	Active TSS	Fetal Brain Male	brain
24	chr5:60625800-60626600	Active TSS	Stomach Smooth Muscle	stomach
25	chr5:60625800-60627400	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr5:60625800-60628800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:60625800-60628800	Active TSS	Brain Germinal Matrix	brain
28	chr5:60625800-60630000	Active TSS	Fetal Lung	lung
29	chr5:60625800-60630200	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr5:60625800-60630400	Active TSS	Fetal Brain Female	brain
31	chr5:60625800-60630800	Active TSS	NHDF-Ad	bronchial
32	chr5:60625800-60631000	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr5:60625800-60631000	Active TSS	HSMM	muscle
34	chr5:60626000-60626400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:60626000-60626400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
36	chr5:60626000-60626400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr5:60626000-60626400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr5:60626000-60626400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr5:60626000-60626400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
40	chr5:60626000-60626400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:60626000-60626400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:60626000-60626400	Flanking Active TSS	Fetal Muscle Trunk	muscle
43	chr5:60626000-60626400	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr5:60626000-60626400	Flanking Active TSS	Stomach Mucosa	stomach
45	chr5:60626000-60626400	Flanking Bivalent TSS/Enh	Thymus	Thymus
46	chr5:60626000-60626400	Flanking Bivalent TSS/Enh	HepG2	liver
47	chr5:60626000-60626600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chr5:60626000-60626600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr5:60626000-60626600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr5:60626000-60626600	Flanking Active TSS	Primary B cells from peripheral blood	blood

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