Variant report

Variant	rs74011709
Chromosome Location	chr15:42377107-42377108
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	CTCF	chr15:42376416-42377152	A549	lung:	n/a	chr15:42376752-42376770 chr15:42376930-42376943 chr15:42376753-42376769 chr15:42376540-42376548
2	CEBPB	chr15:42376611-42377138	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr15:42377100-42377250	BE2_C	brain:	n/a	n/a
4	CTCF	chr15:42376986-42377138	GM12891	blood:	n/a	n/a
5	POLR2A	chr15:42376665-42377163	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr15:42377100-42377250	GM12874	blood:	n/a	n/a
7	FOS	chr15:42376726-42377799	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr15:42376734-42377328	MCF10A-Er-Src	breast:	n/a	n/a
9	CTCF	chr15:42376451-42377179	HCT-116	colon:	n/a	chr15:42376752-42376770 chr15:42376930-42376943 chr15:42376753-42376769 chr15:42376540-42376548
10	RAD21	chr15:42376381-42377164	HCT-116	colon:	n/a	chr15:42376493-42376506 chr15:42377075-42377088
11	STAT3	chr15:42376712-42377355	MCF10A-Er-Src	breast:	n/a	n/a
12	RAD21	chr15:42376379-42377157	HCT-116	colon:	n/a	chr15:42376493-42376506 chr15:42377075-42377088
13	FOS	chr15:42376736-42377227	MCF10A-Er-Src	breast:	n/a	n/a
14	CTCF	chr15:42376544-42377179	SK-N-SH	brain:	n/a	chr15:42376752-42376770 chr15:42376930-42376943 chr15:42376753-42376769
15	CTCF	chr15:42377020-42377170	HA-sp	spinal cord:	n/a	n/a
16	STAT3	chr15:42376732-42377293	MCF10A-Er-Src	breast:	n/a	n/a
17	CTCF	chr15:42376433-42377126	K562	blood:	n/a	chr15:42376752-42376770 chr15:42376930-42376943 chr15:42376753-42376769 chr15:42376540-42376548
18	MYC	chr15:42376649-42377152	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr15:42376826-42377670	MCF10A-Er-Src	breast:	n/a	n/a
20	CTCF	chr15:42377060-42377210	GM12868	blood:	n/a	n/a
21	CTCF	chr15:42377020-42377170	AoAF	blood vessel:	n/a	n/a
22	POLR2A	chr15:42376750-42377216	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr15:42376741-42377132	MCF10A-Er-Src	breast:	n/a	n/a
24	RAD21	chr15:42376352-42377178	SK-N-SH	brain:	n/a	chr15:42376493-42376506 chr15:42377075-42377088
25	FOS	chr15:42376672-42377850	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr15:42376922-42377157	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:42376516..42377170-chr15:42429615..42430377,2	MCF-7	breast:
2	chr15:42376241..42377224-chr15:42430049..42430612,3	K562	blood:
3	chr15:42358590..42359450-chr15:42376513..42377180,4	MCF-7	breast:
4	chr15:42281439..42282363-chr15:42376733..42377249,2	K562	blood:
5	chr15:42360712..42361732-chr15:42376391..42377254,4	MCF-7	breast:
6	chr15:42358307..42359354-chr15:42376475..42377334,4	K562	blood:
7	chr15:42281424..42281989-chr15:42376284..42377139,3	MCF-7	breast:
8	chr15:41895468..41896179-chr15:42376670..42377308,2	K562	blood:

Variant related genes	Relation type
PLA2G4D	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12899166	1.00[AMR][1000 genomes]
rs56012626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57207988	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58429890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61733873	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats 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	73 gene(s)	inside rSNPs	diseases
6	nsv471683	chr15:42334375-42502982	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1043641	chr15:42336584-42381240	Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv904131	chr15:42343794-42390223	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv904132	chr15:42343794-42398046	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv832985	chr15:42371482-42564966	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42369800-42385000	Weak transcription	Right Atrium	heart
2	chr15:42371800-42380800	Weak transcription	Pancreas	Pancrea
3	chr15:42372800-42383000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:42373400-42384400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr15:42373400-42384400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:42375000-42377600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr15:42375000-42378200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:42375200-42380200	Weak transcription	Gastric	stomach
9	chr15:42375800-42377400	Enhancers	Esophagus	oesophagus
10	chr15:42375800-42377800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:42376200-42377200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:42376200-42377400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr15:42376200-42377600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr15:42376400-42377200	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr15:42376400-42377200	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr15:42376400-42377200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr15:42376400-42377200	Enhancers	Right Ventricle	heart
18	chr15:42376400-42377200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
19	chr15:42376400-42377400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr15:42376400-42377400	Enhancers	Fetal Intestine Large	intestine
21	chr15:42376400-42377400	Enhancers	Lung	lung
22	chr15:42376400-42377400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr15:42376400-42377600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:42376400-42377600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr15:42376400-42377600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:42376400-42377600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:42376400-42377600	Bivalent Enhancer	Placenta	Placenta
28	chr15:42376400-42378200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr15:42376600-42377200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:42376600-42377200	Bivalent Enhancer	Fetal Stomach	stomach
31	chr15:42376600-42377200	Enhancers	Spleen	Spleen
32	chr15:42376600-42377400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr15:42376600-42377400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:42376600-42377400	Enhancers	Fetal Intestine Small	intestine
35	chr15:42376600-42377600	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr15:42376600-42378200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr15:42376600-42378600	Enhancers	Fetal Thymus	thymus
38	chr15:42376800-42377200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr15:42376800-42377200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr15:42376800-42377200	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr15:42376800-42377200	Enhancers	Primary hematopoietic stem cells	blood
42	chr15:42376800-42377200	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr15:42376800-42377200	Bivalent Enhancer	HSMMtube	muscle
44	chr15:42376800-42377400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:42376800-42377400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr15:42376800-42377600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr15:42376800-42377600	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr15:42376800-42377600	Flanking Active TSS	Hela-S3	cervix
49	chr15:42376800-42378000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr15:42376800-42378000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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