Variant report

Variant	rs604751
Chromosome Location	chr15:41198894-41198895
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	chr15:41198205-41199196	HepG2	liver:	n/a	n/a
2	CTCF	chr15:41198450-41198940	K562	blood:	n/a	chr15:41198712-41198728 chr15:41198466-41198479 chr15:41198723-41198739 chr15:41198609-41198618 chr15:41198880-41198893 chr15:41198763-41198776 chr15:41198714-41198727 chr15:41198711-41198729 chr15:41198713-41198734 chr15:41198716-41198726
3	POLR2A	chr15:41198465-41198976	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr15:41198320-41199010	ProgFib	skin:	n/a	n/a
5	JUND	chr15:41198549-41199068	H1-hESC	embryonic stem cell:	n/a	chr15:41198690-41198699
6	ZKSCAN1	chr15:41198414-41198964	Hela-S3	cervix:	n/a	n/a
7	TFAP2C	chr15:41197880-41199199	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr15:41198481-41199262	H1-hESC	embryonic stem cell:	n/a	chr15:41198712-41198728 chr15:41199116-41199129 chr15:41199138-41199154 chr15:41199137-41199155 chr15:41198723-41198739 chr15:41198609-41198618 chr15:41198880-41198893 chr15:41198763-41198776 chr15:41198714-41198727 chr15:41198711-41198729 chr15:41199114-41199132 chr15:41198713-41198734 chr15:41199119-41199132 chr15:41198716-41198726 chr15:41199139-41199160
9	RCOR1	chr15:41198124-41198950	Hela-S3	cervix:	n/a	n/a
10	CREB1	chr15:41198469-41199312	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:41198773-41198929	Gliobla	brain:	n/a	n/a
12	YY1	chr15:41198556-41198937	H1-hESC	embryonic stem cell:	n/a	chr15:41198681-41198695
13	EP300	chr15:41198331-41198966	ECC-1	luminal epithelium:	n/a	chr15:41198720-41198729
14	MAX	chr15:41198419-41199259	H1-hESC	embryonic stem cell:	n/a	n/a
15	CREB1	chr15:41198395-41199185	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAZ	chr15:41198464-41199180	HepG2	liver:	n/a	n/a
17	SP1	chr15:41198517-41199269	H1-hESC	embryonic stem cell:	n/a	chr15:41198956-41198968 chr15:41198957-41198971 chr15:41198958-41198967 chr15:41198956-41198968 chr15:41198772-41198782 chr15:41198772-41198782 chr15:41199124-41199138 chr15:41198957-41198966 chr15:41198957-41198967
18	GABPA	chr15:41198586-41199757	MCF-7	breast:	n/a	n/a
19	RCOR1	chr15:41198590-41199130	GM12878	blood:	n/a	n/a
20	ZBTB7A	chr15:41198161-41199708	ECC-1	luminal epithelium:	n/a	chr15:41198719-41198728 chr15:41199145-41199154
21	CHD2	chr15:41198616-41198994	HepG2	liver:	n/a	n/a
22	GABPA	chr15:41198490-41198990	H1-hESC	embryonic stem cell:	n/a	n/a
23	NR2F2	chr15:41198159-41199649	MCF-7	breast:	n/a	n/a
24	POLR2A	chr15:41197899-41199537	PFSK-1	brain:	n/a	n/a
25	MYC	chr15:41198542-41198909	K562	blood:	n/a	n/a
26	POLR2A	chr15:41198041-41199109	HL-60	blood:	n/a	n/a
27	POLR2A	chr15:41198226-41199608	K562	blood:	n/a	n/a
28	STAT5A	chr15:41198176-41199524	GM12878	blood:	n/a	chr15:41199296-41199308 chr15:41198953-41198965 chr15:41199286-41199294 chr15:41198541-41198548
29	POLR2A	chr15:41198090-41199194	U87	brain:	n/a	n/a
30	POLR2A	chr15:41197999-41200086	HUVEC	blood vessel:	n/a	n/a
31	YY1	chr15:41198472-41198952	K562	blood:	n/a	chr15:41198681-41198695
32	ETS1	chr15:41198499-41198952	K562	blood:	n/a	chr15:41198617-41198630
33	FOXA2	chr15:41198269-41198911	A549	lung:	n/a	n/a
34	POLR2A	chr15:41198624-41199002	A549	lung:	n/a	n/a
35	SIN3AK20	chr15:41198509-41199259	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAZ	chr15:41197745-41199962	IMR90	lung:	n/a	chr15:41199304-41199314
37	STAT1	chr15:41198601-41199000	GM12878	blood:	n/a	chr15:41198953-41198965
38	GABPA	chr15:41198509-41199618	MCF-7	breast:	n/a	n/a
39	SIN3AK20	chr15:41198330-41199124	PANC-1	pancreas:	n/a	n/a
40	RFX5	chr15:41198263-41198927	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr15:41198673-41199092	MCF-7	breast:	n/a	n/a
42	RAD21	chr15:41198208-41198954	SK-N-SH_RA	brain:	n/a	chr15:41198883-41198895 chr15:41198712-41198731 chr15:41198465-41198479 chr15:41198466-41198478 chr15:41198611-41198620
43	CTCF	chr15:41198467-41198952	A549	lung:	n/a	chr15:41198712-41198728 chr15:41198723-41198739 chr15:41198609-41198618 chr15:41198880-41198893 chr15:41198763-41198776 chr15:41198714-41198727 chr15:41198711-41198729 chr15:41198713-41198734 chr15:41198716-41198726
44	MAX	chr15:41198472-41199038	H1-hESC	embryonic stem cell:	n/a	n/a
45	RAD21	chr15:41198523-41198913	HepG2	liver:	n/a	chr15:41198883-41198895 chr15:41198712-41198731 chr15:41198611-41198620
46	MYC	chr15:41198869-41198916	HepG2	liver:	n/a	n/a
47	TBL1XR1	chr15:41198766-41198958	K562	blood:	n/a	n/a
48	YY1	chr15:41198538-41198906	GM12878	blood:	n/a	chr15:41198681-41198695
49	POLR2A	chr15:41198683-41199032	HepG2	liver:	n/a	n/a
50	POLR2A	chr15:41198135-41199067	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:41186236..41188043-chr15:41197568..41199237,2	MCF-7	breast:
2	chr15:41198263..41199313-chr15:41222499..41223280,4	MCF-7	breast:
3	chr15:41196932..41200984-chr15:41244050..41248455,6	K562	blood:
4	chr15:41195189..41208751-chr15:41218816..41225232,20	MCF-7	breast:
5	chr15:41197462..41204234-chr15:41215803..41223321,13	K562	blood:
6	chr15:41194927..41205036-chr15:41218861..41227276,20	MCF-7	breast:
7	chr15:41162876..41167684-chr15:41196844..41200482,5	MCF-7	breast:
8	chr15:41198680..41200257-chr15:41407183..41410024,3	MCF-7	breast:
9	chr15:41135781..41139367-chr15:41195514..41200270,4	MCF-7	breast:
10	chr15:41193987..41204234-chr15:41215915..41223506,12	K562	blood:
11	chr15:41196697..41198926-chr15:41308162..41310541,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251161	TF binding region
ENSG00000104142	Chromatin interaction
ENSG00000261183	Chromatin interaction
ENSG00000259521	Chromatin interaction
ENSG00000166145	Chromatin interaction
ENSG00000264256	Chromatin interaction
ENSG00000104140	Chromatin interaction
ENSG00000128917	Chromatin interaction
ENSG00000128965	Chromatin interaction
ENSG00000128908	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2008102	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3100812	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611694	0.87[AFR][1000 genomes]
rs627458	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs686038	0.85[AFR][1000 genomes]
rs9806683	0.88[AFR][1000 genomes]

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	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv904104	chr15:41149824-41234932	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv904105	chr15:41149824-41275014	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
7	esv1819792	chr15:41184722-41234825	Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 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	chr15:41197400-41205600	Enhancers	Lung	lung
2	chr15:41197800-41200400	Enhancers	Spleen	Spleen
3	chr15:41198000-41199200	Flanking Active TSS	Fetal Lung	lung
4	chr15:41198000-41199800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr15:41198000-41200400	Enhancers	Fetal Brain Male	brain
6	chr15:41198200-41199600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr15:41198200-41199800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:41198200-41199800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr15:41198200-41199800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr15:41198200-41200000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:41198200-41200000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr15:41198200-41200000	Flanking Active TSS	Hela-S3	cervix
13	chr15:41198200-41200200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:41198200-41200200	Enhancers	HMEC	breast
15	chr15:41198200-41200600	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr15:41198400-41199000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:41198400-41199000	Active TSS	Colon Smooth Muscle	Colon
18	chr15:41198400-41199000	Active TSS	Thymus	Thymus
19	chr15:41198400-41199200	Flanking Active TSS	Rectal Smooth Muscle	rectum
20	chr15:41198400-41199200	Flanking Active TSS	Osteobl	bone
21	chr15:41198400-41199400	Active TSS	H9 Cell Line	embryonic stem cell
22	chr15:41198400-41199400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr15:41198400-41199400	Active TSS	Right Ventricle	heart
24	chr15:41198400-41199800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr15:41198400-41199800	Flanking Active TSS	Fetal Muscle Trunk	muscle
26	chr15:41198400-41200000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr15:41198400-41200000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr15:41198400-41200000	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr15:41198400-41200000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr15:41198400-41200200	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr15:41198600-41199000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr15:41198600-41199000	Active TSS	Primary T cells from cord blood	blood
33	chr15:41198600-41199000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr15:41198600-41199000	Active TSS	Brain Angular Gyrus	brain
35	chr15:41198600-41199200	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr15:41198600-41199200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:41198600-41199200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:41198600-41199200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:41198600-41199200	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr15:41198600-41199200	Active TSS	Fetal Brain Female	brain
41	chr15:41198600-41199200	Flanking Active TSS	Pancreas	Pancrea
42	chr15:41198600-41199200	Flanking Active TSS	Psoas Muscle	Psoas
43	chr15:41198600-41199200	Flanking Active TSS	Right Atrium	heart
44	chr15:41198600-41199200	Flanking Active TSS	HSMM	muscle
45	chr15:41198600-41199200	Flanking Active TSS	NH-A	brain
46	chr15:41198600-41199400	Active TSS	Ovary	ovary
47	chr15:41198600-41199400	Flanking Active TSS	Dnd41	blood
48	chr15:41198600-41199600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr15:41198600-41199600	Flanking Active TSS	Esophagus	oesophagus
50	chr15:41198600-41199600	Flanking Active TSS	Fetal Muscle Leg	muscle

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