Variant report

Variant	rs186868861
Chromosome Location	chr5:60626126-60626127
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	REST	chr5:60625830-60631210	H1-neurons	neurons:	n/a	chr5:60629395-60629408 chr5:60626655-60626668
2	MYC	chr5:60625746-60626233	MCF10A-Er-Src	breast:	n/a	n/a
3	TCF7L2	chr5:60626088-60628038	Hela-S3	cervix:	n/a	chr5:60627651-60627660 chr5:60627648-60627662
4	FOS	chr5:60625382-60626284	HUVEC	blood vessel:	n/a	chr5:60625807-60625818
5	TCF12	chr5:60626122-60628395	ECC-1	luminal epithelium:	n/a	chr5:60627382-60627392
6	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
7	MAX	chr5:60626103-60628180	SK-N-SH	brain:	n/a	chr5:60627550-60627560 chr5:60627234-60627243 chr5:60627832-60627842
8	POLR2A	chr5:60625558-60630285	Hela-S3	cervix:	n/a	n/a
9	MAFK	chr5:60625724-60627683	Hela-S3	cervix:	n/a	chr5:60626128-60626143
10	POLR2A	chr5:60625341-60628382	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr5:60626057-60626735	SK-N-MC	brain:	n/a	n/a
12	GATA2	chr5:60625552-60626658	HUVEC	blood vessel:	n/a	n/a
13	FOXM1	chr5:60626040-60626808	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr5:60625918-60628469	HUVEC	blood vessel:	n/a	n/a
15	MXI1	chr5:60625150-60628551	IMR90	lung:	n/a	n/a
16	RCOR1	chr5:60623071-60628252	IMR90	lung:	n/a	n/a
17	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
18	MAX	chr5:60626088-60628204	A549	lung:	n/a	chr5:60627550-60627560 chr5:60627234-60627243 chr5:60627832-60627842
19	MYC	chr5:60626059-60628148	A549	lung:	n/a	chr5:60627550-60627560 chr5:60627234-60627243 chr5:60627832-60627842
20	RAD21	chr5:60626085-60628171	SK-N-SH_RA	brain:	n/a	chr5:60627693-60627703 chr5:60627693-60627705
21	MAX	chr5:60626065-60628375	HCT-116	colon:	n/a	chr5:60627550-60627560 chr5:60627234-60627243 chr5:60627832-60627842
22	SIN3AK20	chr5:60626082-60628487	MCF-7	breast:	n/a	n/a
23	KAP1	chr5:60624848-60626830	HEK293	kidney:	n/a	n/a
24	RAD21	chr5:60625559-60627319	Hela-S3	cervix:	n/a	n/a
25	MAX	chr5:60626012-60628586	A549	lung:	n/a	chr5:60627550-60627560 chr5:60627234-60627243 chr5:60627832-60627842
26	SP1	chr5:60626093-60626662	A549	lung:	n/a	n/a
27	FOS	chr5:60625640-60626463	MCF10A-Er-Src	breast:	n/a	chr5:60625807-60625818
28	KAP1	chr5:60625602-60626704	U2OS	brain:	n/a	n/a
29	POLR2A	chr5:60625447-60627903	HUVEC	blood vessel:	n/a	n/a
30	RFX5	chr5:60625804-60628207	Hela-S3	cervix:	n/a	n/a
31	MXI1	chr5:60625218-60631493	SK-N-SH	brain:	n/a	n/a
32	SMC3	chr5:60625505-60627719	Hela-S3	cervix:	n/a	chr5:60627693-60627703 chr5:60626856-60626870 chr5:60625619-60625626 chr5:60626837-60626847 chr5:60626859-60626869
33	GATA3	chr5:60626075-60628384	A549	lung:	n/a	n/a
34	POLR2A	chr5:60623868-60631522	IMR90	lung:	n/a	n/a
35	E2F6	chr5:60626101-60627476	A549	lung:	n/a	chr5:60626897-60626911 chr5:60626705-60626715 chr5:60627410-60627419
36	HCFC1	chr5:60625212-60628404	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr5:60626035-60628502	MCF10A-Er-Src	breast:	n/a	n/a
38	RAD21	chr5:60625325-60627722	IMR90	lung:	n/a	chr5:60627693-60627703 chr5:60627693-60627705
39	SMARCB1	chr5:60626126-60629961	Hela-S3	cervix:	n/a	n/a
40	MAX	chr5:60625694-60629005	Hela-S3	cervix:	n/a	chr5:60627550-60627560 chr5:60628825-60628835 chr5:60628780-60628789 chr5:60627234-60627243 chr5:60627832-60627842
41	POLR2A	chr5:60625240-60628184	HUVEC	blood vessel:	n/a	n/a
42	JUND	chr5:60625625-60626473	Hela-S3	cervix:	n/a	chr5:60625807-60625818
43	MAX	chr5:60626087-60626595	SK-N-SH	brain:	n/a	n/a
44	SIN3AK20	chr5:60626072-60627439	A549	lung:	n/a	n/a
45	MAX	chr5:60626113-60628217	ECC-1	luminal epithelium:	n/a	chr5:60627550-60627560 chr5:60627234-60627243 chr5:60627832-60627842
46	EBF1	chr5:60625653-60626422	GM12878	blood:	n/a	chr5:60626233-60626242
47	MXI1	chr5:60626112-60628138	Hela-S3	cervix:	n/a	n/a
48	MAX	chr5:60626113-60628541	MCF-7	breast:	n/a	chr5:60627550-60627560 chr5:60627234-60627243 chr5:60627832-60627842
49	TCF12	chr5:60625947-60628399	A549	lung:	n/a	chr5:60627382-60627392
50	RCOR1	chr5:60625736-60628157	Hela-S3	cervix:	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	chr5:59993591..59996148-chr5:60625919..60628980,4	K562	blood:
4	chr5:60469553..60471380-chr5:60625380..60627759,2	MCF-7	breast:
5	chr12:53845725..53846383-chr5:60625600..60626600,2	Hela-S3	cervix:
6	chr5:60546830..60548400-chr5:60625408..60627597,2	MCF-7	breast:
7	chr5:60353410..60356120-chr5:60624338..60627119,3	MCF-7	breast:
8	chr5:60554941..60557365-chr5:60625053..60627690,3	MCF-7	breast:
9	chr5:60626093..60627678-chr5:60926976..60929648,2	MCF-7	breast:
10	chr5:60605123..60607843-chr5:60623875..60626572,3	MCF-7	breast:

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

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60617000-60626200	Weak transcription	Esophagus	oesophagus
2	chr5:60619400-60626200	Weak transcription	Small Intestine	intestine
3	chr5:60623600-60626200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:60623800-60626200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:60623800-60626400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr5:60624400-60626200	Bivalent Enhancer	GM12878-XiMat	blood
7	chr5:60624400-60626600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr5:60624800-60626200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
9	chr5:60624800-60626200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr5:60625000-60626800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr5:60625200-60626200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
12	chr5:60625200-60626200	Flanking Active TSS	A549	lung
13	chr5:60625200-60626600	Flanking Active TSS	HUVEC	blood vessel
14	chr5:60625200-60630800	Active TSS	Colonic Mucosa	Colon
15	chr5:60625400-60626200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr5:60625400-60626200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr5:60625400-60626200	Weak transcription	Left Ventricle	heart
18	chr5:60625400-60626200	Weak transcription	Lung	lung
19	chr5:60625400-60626200	Weak transcription	Spleen	Spleen
20	chr5:60625400-60626400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr5:60625400-60626400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr5:60625400-60626400	Flanking Active TSS	NH-A	brain
23	chr5:60625400-60631000	Active TSS	Brain Hippocampus Middle	brain
24	chr5:60625600-60626200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:60625600-60626200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
26	chr5:60625600-60626200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr5:60625600-60626200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr5:60625600-60626200	Active TSS	Liver	Liver
29	chr5:60625600-60626200	Flanking Active TSS	Fetal Intestine Large	intestine
30	chr5:60625600-60626200	Weak transcription	Gastric	stomach
31	chr5:60625600-60626200	Flanking Active TSS	Osteobl	bone
32	chr5:60625600-60626400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr5:60625600-60626400	Flanking Active TSS	Fetal Intestine Small	intestine
34	chr5:60625600-60626600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr5:60625600-60626600	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr5:60625600-60626800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:60625600-60630600	Active TSS	Colon Smooth Muscle	Colon
38	chr5:60625600-60630800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:60625600-60630800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:60625600-60631000	Active TSS	Brain Anterior Caudate	brain
41	chr5:60625800-60626200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:60625800-60626200	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr5:60625800-60626200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:60625800-60626200	Enhancers	Brain Substantia Nigra	brain
45	chr5:60625800-60626200	Active TSS	Duodenum Mucosa	Duodenum
46	chr5:60625800-60626200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr5:60625800-60626200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr5:60625800-60626200	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr5:60625800-60626400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:60625800-60626600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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