Variant report

Variant	rs7171143
Chromosome Location	chr15:40615671-40615672
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	MYC	chr15:40615580-40616003	HepG2	liver:	n/a	n/a
2	CTCF	chr15:40615478-40615879	Pancreas_OC	pancreas:	n/a	chr15:40615657-40615667 chr15:40615826-40615836 chr15:40615652-40615670 chr15:40615655-40615664
3	TCF7L2	chr15:40615384-40616012	HCT-116	colon:	n/a	n/a
4	CTCF	chr15:40615540-40615690	WERI-Rb-1	eye:	n/a	chr15:40615657-40615667 chr15:40615652-40615670 chr15:40615655-40615664
5	FOS	chr15:40615502-40615868	MCF10A-Er-Src	breast:	n/a	n/a
6	ELF1	chr15:40615301-40615964	MCF-7	breast:	n/a	chr15:40615524-40615536 chr15:40615869-40615881
7	MAX	chr15:40615224-40616200	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr15:40615181-40616130	HCT-116	colon:	n/a	n/a
9	SIN3AK20	chr15:40615093-40615953	H1-hESC	embryonic stem cell:	n/a	n/a
10	SP1	chr15:40615510-40615902	K562	blood:	n/a	chr15:40615521-40615530 chr15:40615822-40615831 chr15:40615821-40615833 chr15:40615822-40615831 chr15:40615519-40615531 chr15:40615821-40615833 chr15:40615823-40615832
11	SRF	chr15:40615512-40616065	ECC-1	luminal epithelium:	n/a	n/a
12	CREB1	chr15:40615334-40616100	K562	blood:	n/a	chr15:40615668-40615681 chr15:40615668-40615681
13	CTCF	chr15:40615660-40615810	HCT-116	colon:	n/a	n/a
14	POLR2A	chr15:40615217-40616166	H1-neurons	neurons:	n/a	n/a
15	MAX	chr15:40615367-40615928	HUVEC	blood vessel:	n/a	n/a
16	JUND	chr15:40615506-40615880	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr15:40615580-40615730	NHDF-neo	bronchial:	n/a	chr15:40615657-40615667 chr15:40615652-40615670 chr15:40615655-40615664
18	NANOG	chr15:40615408-40615876	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr15:40615521-40615751	K562	blood:	n/a	chr15:40615657-40615667 chr15:40615652-40615670 chr15:40615655-40615664
20	CTCF	chr15:40615477-40615851	GM12878	blood:	n/a	chr15:40615657-40615667 chr15:40615826-40615836 chr15:40615652-40615670 chr15:40615655-40615664
21	CREB1	chr15:40615269-40616066	HepG2	liver:	n/a	chr15:40615668-40615681 chr15:40615668-40615681
22	CEBPB	chr15:40615441-40615746	H1-hESC	embryonic stem cell:	n/a	n/a
23	PBX3	chr15:40615305-40615989	SK-N-SH	brain:	n/a	n/a
24	ELF1	chr15:40615467-40615945	SK-N-SH	brain:	n/a	chr15:40615524-40615536 chr15:40615869-40615881
25	MYC	chr15:40615434-40616433	NB4	blood:	n/a	n/a
26	BCLAF1	chr15:40615405-40615906	K562	blood:	n/a	chr15:40615745-40615758 chr15:40615770-40615779 chr15:40615720-40615733 chr15:40615521-40615530 chr15:40615850-40615863
27	PBX3	chr15:40615339-40615955	SK-N-SH	brain:	n/a	n/a
28	CTCF	chr15:40615595-40615671	GM20000	blood:	n/a	chr15:40615657-40615667 chr15:40615652-40615670 chr15:40615655-40615664
29	ETS1	chr15:40615510-40616052	K562	blood:	n/a	chr15:40615770-40615779 chr15:40615847-40615858 chr15:40615823-40615834 chr15:40615770-40615779 chr15:40615768-40615778
30	ZMIZ1	chr15:40615529-40615803	K562	blood:	n/a	n/a
31	POLR2A	chr15:40615310-40616160	H1-neurons	neurons:	n/a	n/a
32	JUND	chr15:40614913-40616036	SK-N-SH	brain:	n/a	n/a
33	RUNX3	chr15:40615291-40615882	GM12878	blood:	n/a	n/a
34	ELF1	chr15:40615656-40615868	A549	lung:	n/a	n/a
35	ZNF143	chr15:40615502-40615839	K562	blood:	n/a	n/a
36	MYC	chr15:40615486-40616574	MCF-7	breast:	n/a	n/a
37	CTCF	chr15:40615515-40615743	A549	lung:	n/a	chr15:40615657-40615667 chr15:40615652-40615670 chr15:40615655-40615664
38	SIN3AK20	chr15:40615374-40615717	HepG2	liver:	n/a	n/a
39	POLR2A	chr15:40615620-40616000	HCT-116	colon:	n/a	n/a
40	EP300	chr15:40615336-40616086	ECC-1	luminal epithelium:	n/a	chr15:40616070-40616086 chr15:40615738-40615754 chr15:40615905-40615914 chr15:40615825-40615841 chr15:40615771-40615778 chr15:40615737-40615753
41	KAT2A	chr15:40615493-40615904	GM12878	blood:	n/a	n/a
42	CHD2	chr15:40615430-40615891	H1-hESC	embryonic stem cell:	n/a	chr15:40615821-40615831 chr15:40615851-40615861 chr15:40615842-40615852
43	RCOR1	chr15:40615449-40615801	HepG2	liver:	n/a	n/a
44	CHD2	chr15:40615513-40615790	HepG2	liver:	n/a	n/a
45	ELK1	chr15:40615563-40615939	GM12878	blood:	n/a	chr15:40615770-40615779 chr15:40615770-40615779
46	CTCF	chr15:40615372-40615817	K562	blood:	n/a	chr15:40615657-40615667 chr15:40615652-40615670 chr15:40615655-40615664
47	RFX5	chr15:40615627-40615764	HepG2	liver:	n/a	n/a
48	MAX	chr15:40615398-40615928	H1-hESC	embryonic stem cell:	n/a	n/a
49	JUND	chr15:40615556-40615908	A549	lung:	n/a	n/a
50	CTCF	chr15:40615491-40615774	SK-N-SH_RA	brain:	n/a	chr15:40615657-40615667 chr15:40615652-40615670 chr15:40615655-40615664

No.	Distal block	Cell Line	Cell type
1	chr15:40615161..40616254-chr15:40713827..40714847,4	K562	blood:
2	chr15:40615499..40617257-chr15:40732436..40735160,2	K562	blood:
3	chr15:40614221..40619136-chr15:40629898..40635011,9	K562	blood:
4	chr15:40583616..40585723-chr15:40614548..40617090,2	K562	blood:
5	chr15:40573745..40575892-chr15:40613923..40616158,2	K562	blood:
6	chr15:40606578..40610704-chr15:40612489..40616999,9	K562	blood:
7	chr15:40581922..40583593-chr15:40614518..40616173,2	K562	blood:
8	chr15:40596957..40600729-chr15:40613519..40617071,4	K562	blood:
9	chr15:40615118..40617051-chr15:40729542..40732021,2	K562	blood:
10	chr15:40613571..40616194-chr15:40676591..40679577,2	K562	blood:
11	chr15:40614961..40616867-chr15:40712396..40714190,2	MCF-7	breast:
12	chr15:40573791..40575924-chr15:40613554..40617283,3	MCF-7	breast:
13	chr15:40608873..40611853-chr15:40613878..40616202,2	MCF-7	breast:
14	chr15:40510541..40512947-chr15:40613762..40616049,2	K562	blood:
15	chr15:40606578..40609257-chr15:40612890..40617072,4	K562	blood:
16	chr15:40613279..40619250-chr15:40625286..40632667,13	MCF-7	breast:
17	chr15:40615591..40616151-chr15:40630170..40630839,2	K562	blood:
18	chr15:40599147..40601689-chr15:40614013..40619011,4	K562	blood:
19	chr15:40613324..40616013-chr15:40714259..40715828,2	K562	blood:
20	chr15:40613668..40617143-chr15:40761466..40764045,3	K562	blood:

Variant related genes	Relation type
LINC00984	TF binding region
ENSG00000140320	Chromatin interaction
ENSG00000137841	Chromatin interaction
ENSG00000230778	Chromatin interaction
ENSG00000169105	Chromatin interaction
ENSG00000188549	Chromatin interaction
ENSG00000259288	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2004251	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2118960	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs961090	0.82[ASN][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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv1850798	chr15:40560607-40622191	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv827305	chr15:40596162-40625922	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3378883	chr15:40614885-40617433	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv3428901	chr15:40615210-40617508	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3438791	chr15:40615285-40617833	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40613400-40617000	Enhancers	Fetal Brain Male	brain
2	chr15:40614800-40616800	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr15:40614800-40617000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr15:40614800-40617200	Active TSS	Gastric	stomach
5	chr15:40614800-40618200	Active TSS	Colon Smooth Muscle	Colon
6	chr15:40614800-40618400	Active TSS	Aorta	Aorta
7	chr15:40615000-40615800	Enhancers	Primary hematopoietic stem cells	blood
8	chr15:40615000-40615800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:40615000-40616800	Active TSS	Brain Angular Gyrus	brain
10	chr15:40615000-40616800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:40615000-40617000	Active TSS	Brain Anterior Caudate	brain
12	chr15:40615000-40617000	Active TSS	Brain Cingulate Gyrus	brain
13	chr15:40615000-40617200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:40615200-40615800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:40615200-40615800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:40615200-40617000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr15:40615200-40617000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:40615200-40617200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr15:40615200-40617200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr15:40615200-40617800	Active TSS	Right Atrium	heart
21	chr15:40615400-40615800	Flanking Active TSS	HMEC	breast
22	chr15:40615400-40616000	Weak transcription	Spleen	Spleen
23	chr15:40615400-40616200	Weak transcription	NHDF-Ad	bronchial
24	chr15:40615400-40616400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr15:40615400-40616600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr15:40615400-40616600	Active TSS	Brain Germinal Matrix	brain
27	chr15:40615400-40616800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:40615400-40616800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr15:40615400-40616800	Active TSS	Fetal Intestine Small	intestine
30	chr15:40615400-40616800	Active TSS	Psoas Muscle	Psoas
31	chr15:40615400-40616800	Active TSS	A549	lung
32	chr15:40615400-40616800	Active TSS	HepG2	liver
33	chr15:40615400-40617000	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr15:40615400-40617000	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr15:40615400-40617000	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr15:40615400-40617000	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr15:40615400-40617000	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr15:40615400-40617000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:40615400-40617000	Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr15:40615400-40617000	Active TSS	Primary T cells from cord blood	blood
41	chr15:40615400-40617000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:40615400-40617000	Active TSS	Muscle Satellite Cultured Cells	--
43	chr15:40615400-40617000	Active TSS	Brain Hippocampus Middle	brain
44	chr15:40615400-40617000	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr15:40615400-40617000	Active TSS	Brain Substantia Nigra	brain
46	chr15:40615400-40617000	Active TSS	Fetal Brain Female	brain
47	chr15:40615400-40617000	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr15:40615400-40617000	Active TSS	Rectal Smooth Muscle	rectum
49	chr15:40615400-40617000	Active TSS	NH-A	brain
50	chr15:40615400-40617200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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