Variant report

Variant	rs529337577
Chromosome Location	chr15:59663757-59663758
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	POLR2A	chr15:59663560-59665444	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr15:59660865-59666082	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr15:59663366-59667532	MCF10A-Er-Src	breast:	n/a	n/a
4	ZBTB7A	chr15:59663567-59665447	ECC-1	luminal epithelium:	n/a	n/a
5	MAX	chr15:59663729-59665390	GM12878	blood:	n/a	chr15:59664162-59664172 chr15:59664349-59664358 chr15:59664440-59664449 chr15:59664104-59664114
6	ELK1	chr15:59663750-59663861	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr15:59663574-59665764	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr15:59663604-59664007	HCT-116	colon:	n/a	n/a
9	CTCF	chr15:59663740-59663890	GM12872	blood:	n/a	n/a
10	SIN3A	chr15:59663611-59665694	H1-hESC	embryonic stem cell:	n/a	chr15:59664197-59664206 chr15:59664008-59664021 chr15:59664211-59664222 chr15:59664152-59664165 chr15:59664185-59664198
11	POLR2A	chr15:59661541-59663928	GM12891	blood:	n/a	n/a
12	MAX	chr15:59663604-59665694	HepG2	liver:	n/a	chr15:59664162-59664172 chr15:59664349-59664358 chr15:59664440-59664449 chr15:59664104-59664114
13	MAX	chr15:59663598-59665891	ECC-1	luminal epithelium:	n/a	chr15:59664162-59664172 chr15:59664349-59664358 chr15:59664440-59664449 chr15:59664104-59664114
14	POLR2A	chr15:59663669-59665532	GM12878	blood:	n/a	n/a
15	SMC3	chr15:59663495-59663861	Hela-S3	cervix:	n/a	n/a
16	MXI1	chr15:59662592-59665752	Hela-S3	cervix:	n/a	chr15:59664434-59664449
17	RAD21	chr15:59663643-59665402	ECC-1	luminal epithelium:	n/a	chr15:59663895-59663905 chr15:59664358-59664372 chr15:59664300-59664314
18	POLR2A	chr15:59663757-59665448	GM12892	blood:	n/a	n/a
19	POLR2A	chr15:59663752-59665453	GM18505	blood:	n/a	n/a
20	MAFK	chr15:59663733-59663966	Hela-S3	cervix:	n/a	n/a
21	MXI1	chr15:59663501-59665711	GM12878	blood:	n/a	chr15:59664434-59664449
22	RCOR1	chr15:59663512-59664157	Hela-S3	cervix:	n/a	n/a
23	MXI1	chr15:59663655-59665959	SK-N-SH	brain:	n/a	chr15:59664434-59664449
24	SIN3AK20	chr15:59663700-59664418	H1-hESC	embryonic stem cell:	n/a	n/a
25	HA-E2F1	chr15:59663690-59665342	MCF-7	breast:	n/a	chr15:59664098-59664108 chr15:59664127-59664136 chr15:59664163-59664172 chr15:59664219-59664229 chr15:59664221-59664230
26	MAX	chr15:59663473-59665951	A549	lung:	n/a	chr15:59664162-59664172 chr15:59664349-59664358 chr15:59664440-59664449 chr15:59664104-59664114
27	MAX	chr15:59662491-59665832	Hela-S3	cervix:	n/a	chr15:59664162-59664172 chr15:59664349-59664358 chr15:59664440-59664449 chr15:59664104-59664114
28	MAX	chr15:59663637-59665828	ECC-1	luminal epithelium:	n/a	chr15:59664162-59664172 chr15:59664349-59664358 chr15:59664440-59664449 chr15:59664104-59664114
29	WRNIP1	chr15:59663757-59663957	GM12878	blood:	n/a	n/a
30	MXI1	chr15:59662993-59665996	IMR90	lung:	n/a	chr15:59664434-59664449
31	TAF1	chr15:59663700-59665473	ECC-1	luminal epithelium:	n/a	n/a
32	EBF1	chr15:59663570-59664572	GM12878	blood:	n/a	chr15:59663718-59663729
33	MAZ	chr15:59663547-59665400	Hela-S3	cervix:	n/a	chr15:59664162-59664172 chr15:59664349-59664358 chr15:59664440-59664449 chr15:59664104-59664114
34	SIN3AK20	chr15:59663737-59665360	PANC-1	pancreas:	n/a	n/a
35	RAD21	chr15:59663649-59663987	IMR90	lung:	n/a	chr15:59663895-59663905
36	CHD1	chr15:59663453-59665445	GM12878	blood:	n/a	chr15:59663981-59663991 chr15:59665224-59665234
37	SMARCB1	chr15:59663757-59665406	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr15:59663645-59665465	Hela-S3	cervix:	n/a	n/a
39	TBP	chr15:59663609-59663891	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr15:59660476-59665554	Hela-S3	cervix:	n/a	n/a
41	ZBTB7A	chr15:59663648-59665195	ECC-1	luminal epithelium:	n/a	n/a
42	ELF1	chr15:59663721-59665255	GM12878	blood:	n/a	chr15:59664965-59664974 chr15:59664202-59664211 chr15:59664736-59664745 chr15:59664195-59664207 chr15:59664605-59664614 chr15:59664006-59664018
43	RFX5	chr15:59663623-59664088	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:59662898..59664919-chr15:59728478..59730904,2	MCF-7	breast:
2	chr1:207494955..207495711-chr15:59663350..59664088,2	Hela-S3	cervix:
3	chr15:59567773..59570497-chr15:59662817..59664503,2	MCF-7	breast:
4	chr15:59663653..59664227-chr16:31191459..31192395,2	Hela-S3	cervix:

Variant related genes	Relation type
FAM81A	TF binding region
ENSG00000196352	Chromatin interaction
ENSG00000157470	Chromatin interaction
ENSG00000089280	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	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv934082	chr15:59608605-59733211	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv457175	chr15:59609753-59681214	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv569603	chr15:59609753-59681214	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv471246	chr15:59610743-59681214	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv904274	chr15:59623576-59689378	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv904275	chr15:59648633-59726610	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
8	nsv904276	chr15:59648633-59743010	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
9	esv3342886	chr15:59663285-59665833	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59662000-59666000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr15:59662200-59663800	Enhancers	Spleen	Spleen
3	chr15:59662200-59665800	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr15:59662600-59663800	Flanking Active TSS	HUVEC	blood vessel
5	chr15:59662600-59664000	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr15:59662600-59665800	Active TSS	NHLF	lung
7	chr15:59662600-59666000	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr15:59662600-59666000	Active TSS	Rectal Smooth Muscle	rectum
9	chr15:59662600-59666200	Active TSS	Colonic Mucosa	Colon
10	chr15:59662600-59666600	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr15:59662600-59667600	Active TSS	GM12878-XiMat	blood
12	chr15:59662800-59663800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:59662800-59665600	Active TSS	Fetal Intestine Large	intestine
14	chr15:59662800-59665800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:59662800-59665800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:59662800-59665800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr15:59662800-59665800	Active TSS	Left Ventricle	heart
18	chr15:59662800-59666000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:59662800-59666000	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr15:59662800-59666200	Active TSS	Fetal Intestine Small	intestine
21	chr15:59663000-59663800	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr15:59663000-59664000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr15:59663000-59664000	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr15:59663000-59664200	Flanking Active TSS	Fetal Brain Female	brain
25	chr15:59663000-59664400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr15:59663000-59664600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr15:59663000-59665400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr15:59663000-59665600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:59663000-59665800	Active TSS	Brain Angular Gyrus	brain
30	chr15:59663000-59665800	Active TSS	Right Atrium	heart
31	chr15:59663000-59665800	Active TSS	HSMMtube	muscle
32	chr15:59663000-59665800	Active TSS	NHDF-Ad	bronchial
33	chr15:59663000-59666000	Active TSS	H9 Cell Line	embryonic stem cell
34	chr15:59663000-59666000	Active TSS	Aorta	Aorta
35	chr15:59663000-59666200	Active TSS	Duodenum Mucosa	Duodenum
36	chr15:59663200-59663800	Flanking Active TSS	Fetal Heart	heart
37	chr15:59663200-59663800	Transcr. at gene 5' and 3'	A549	lung
38	chr15:59663200-59664000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:59663200-59664000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr15:59663200-59664000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
41	chr15:59663200-59665600	Active TSS	Psoas Muscle	Psoas
42	chr15:59663200-59665800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr15:59663200-59665800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr15:59663200-59665800	Active TSS	Right Ventricle	heart
45	chr15:59663200-59666000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:59663400-59663800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr15:59663400-59663800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr15:59663400-59663800	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr15:59663400-59663800	Flanking Active TSS	HepG2	liver
50	chr15:59663400-59664000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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