Variant report

Variant	rs551640941
Chromosome Location	chr15:40616452-40616453
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	YY1	chr15:40616139-40616624	SK-N-SH_RA	brain:	n/a	chr15:40616324-40616336 chr15:40616598-40616612 chr15:40616314-40616336 chr15:40616327-40616335 chr15:40616326-40616336
2	MYC	chr15:40615486-40616574	MCF-7	breast:	n/a	n/a
3	YY1	chr15:40616087-40616778	GM12878	blood:	n/a	chr15:40616324-40616336 chr15:40616697-40616706 chr15:40616598-40616612 chr15:40616733-40616744 chr15:40616727-40616741 chr15:40616314-40616336 chr15:40616327-40616335 chr15:40616694-40616703 chr15:40616326-40616336 chr15:40616694-40616708
4	POLR2A	chr15:40616240-40616931	K562	blood:	n/a	n/a
5	YY1	chr15:40616059-40616570	H1-hESC	embryonic stem cell:	n/a	chr15:40616324-40616336 chr15:40616079-40616093 chr15:40616073-40616087 chr15:40616314-40616336 chr15:40616327-40616335 chr15:40616326-40616336 chr15:40616076-40616090
6	MAX	chr15:40616195-40616493	MCF-7	breast:	n/a	n/a
7	UBTF	chr15:40615366-40616866	K562	blood:	n/a	n/a
8	JUND	chr15:40615075-40616552	GM12878	blood:	n/a	chr15:40616113-40616122 chr15:40616478-40616487
9	CTCF	chr15:40616380-40616530	SAEC	small airway:	n/a	chr15:40616479-40616492 chr15:40616479-40616492
10	MAX	chr15:40616238-40616762	ECC-1	luminal epithelium:	n/a	n/a
11	YY1	chr15:40615521-40616618	ECC-1	luminal epithelium:	n/a	chr15:40616324-40616336 chr15:40615878-40615892 chr15:40616598-40616612 chr15:40616079-40616093 chr15:40615894-40615914 chr15:40615744-40615758 chr15:40616073-40616087 chr15:40616314-40616336 chr15:40616327-40616335 chr15:40616326-40616336 chr15:40616076-40616090 chr15:40615727-40615741 chr15:40615743-40615754 chr15:40615823-40615832
12	YY1	chr15:40616090-40616563	SK-N-SH_RA	brain:	n/a	chr15:40616324-40616336 chr15:40616314-40616336 chr15:40616327-40616335 chr15:40616326-40616336
13	POLR2A	chr15:40615524-40616625	HUVEC	blood vessel:	n/a	n/a
14	MAX	chr15:40616211-40616609	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr15:40616420-40616570	GM12865	blood:	n/a	chr15:40616479-40616492 chr15:40616479-40616492
16	YY1	chr15:40616159-40616721	H1-hESC	embryonic stem cell:	n/a	chr15:40616324-40616336 chr15:40616697-40616706 chr15:40616598-40616612 chr15:40616314-40616336 chr15:40616327-40616335 chr15:40616694-40616703 chr15:40616326-40616336 chr15:40616694-40616708
17	MAX	chr15:40615362-40616576	NB4	blood:	n/a	n/a
18	POLR2A	chr15:40616206-40616498	ECC-1	luminal epithelium:	n/a	n/a
19	CTBP2	chr15:40616226-40616999	H1-hESC	embryonic stem cell:	n/a	n/a
20	YY1	chr15:40616149-40616554	ECC-1	luminal epithelium:	n/a	chr15:40616324-40616336 chr15:40616314-40616336 chr15:40616327-40616335 chr15:40616326-40616336
21	MYC	chr15:40616277-40616484	K562	blood:	n/a	n/a
22	YY1	chr15:40616140-40616520	GM12892	blood:	n/a	chr15:40616324-40616336 chr15:40616314-40616336 chr15:40616327-40616335 chr15:40616326-40616336
23	YY1	chr15:40616167-40616553	K562	blood:	n/a	chr15:40616324-40616336 chr15:40616314-40616336 chr15:40616327-40616335 chr15:40616326-40616336
24	EGR1	chr15:40616337-40616596	K562	blood:	n/a	chr15:40616477-40616487
25	MAX	chr15:40615386-40616536	K562	blood:	n/a	n/a
26	YY1	chr15:40616178-40616532	A549	lung:	n/a	chr15:40616324-40616336 chr15:40616314-40616336 chr15:40616327-40616335 chr15:40616326-40616336
27	YY1	chr15:40616139-40616726	GM12891	blood:	n/a	chr15:40616324-40616336 chr15:40616697-40616706 chr15:40616598-40616612 chr15:40616314-40616336 chr15:40616327-40616335 chr15:40616694-40616703 chr15:40616326-40616336 chr15:40616694-40616708
28	YY1	chr15:40616184-40616563	GM12891	blood:	n/a	chr15:40616324-40616336 chr15:40616314-40616336 chr15:40616327-40616335 chr15:40616326-40616336
29	MAX	chr15:40616171-40616636	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAZ	chr15:40616343-40616455	K562	blood:	n/a	n/a
31	MAX	chr15:40616350-40616508	GM12878	blood:	n/a	n/a
32	POLR2A	chr15:40615647-40616710	IMR90	lung:	n/a	n/a
33	MAX	chr15:40615236-40616750	K562	blood:	n/a	n/a
34	POLR2A	chr15:40615151-40616626	MCF-7	breast:	n/a	n/a
35	YY1	chr15:40615224-40616801	HepG2	liver:	n/a	chr15:40616324-40616336 chr15:40615878-40615892 chr15:40616697-40616706 chr15:40616598-40616612 chr15:40616079-40616093 chr15:40615894-40615914 chr15:40615744-40615758 chr15:40616733-40616744 chr15:40616073-40616087 chr15:40616727-40616741 chr15:40616314-40616336 chr15:40616327-40616335 chr15:40616694-40616703 chr15:40616326-40616336 chr15:40616076-40616090 chr15:40616694-40616708 chr15:40615727-40615741 chr15:40615743-40615754 chr15:40615823-40615832
36	CTCF	chr15:40616340-40616610	GM12874	blood:	n/a	chr15:40616479-40616492 chr15:40616479-40616492
37	ETS1	chr15:40616358-40616514	K562	blood:	n/a	chr15:40616478-40616489
38	YY1	chr15:40615992-40616639	K562	blood:	n/a	chr15:40616324-40616336 chr15:40616598-40616612 chr15:40616079-40616093 chr15:40616073-40616087 chr15:40616314-40616336 chr15:40616327-40616335 chr15:40616326-40616336 chr15:40616076-40616090
39	ZNF143	chr15:40616367-40616520	GM12878	blood:	n/a	n/a
40	HEY1	chr15:40616253-40616492	K562	blood:	n/a	chr15:40616272-40616287
41	POLR2A	chr15:40616444-40616708	HUVEC	blood vessel:	n/a	n/a
42	E2F6	chr15:40614569-40616609	H1-hESC	embryonic stem cell:	n/a	chr15:40615823-40615832 chr15:40616080-40616090 chr15:40615820-40615832 chr15:40616595-40616605 chr15:40615747-40615757 chr15:40616077-40616087 chr15:40615881-40615896 chr15:40615523-40615532 chr15:40616477-40616486 chr15:40616070-40616080
43	YY1	chr15:40615510-40616728	K562	blood:	n/a	chr15:40616324-40616336 chr15:40615878-40615892 chr15:40616697-40616706 chr15:40616598-40616612 chr15:40616079-40616093 chr15:40615894-40615914 chr15:40615744-40615758 chr15:40616073-40616087 chr15:40616314-40616336 chr15:40616327-40616335 chr15:40616694-40616703 chr15:40616326-40616336 chr15:40616076-40616090 chr15:40616694-40616708 chr15:40615727-40615741 chr15:40615743-40615754 chr15:40615823-40615832
44	CTCFL	chr15:40616396-40616501	K562	blood:	n/a	n/a
45	ZBTB7A	chr15:40616257-40617061	ECC-1	luminal epithelium:	n/a	chr15:40616443-40616454
46	THAP1	chr15:40616427-40616690	K562	blood:	n/a	n/a
47	E2F6	chr15:40616244-40616624	H1-hESC	embryonic stem cell:	n/a	chr15:40616595-40616605 chr15:40616477-40616486
48	MAX	chr15:40616264-40616626	HepG2	liver:	n/a	n/a
49	SIN3AK20	chr15:40616318-40616710	PANC-1	pancreas:	n/a	n/a
50	ZBTB7A	chr15:40616210-40616617	K562	blood:	n/a	chr15:40616443-40616454 chr15:40616246-40616254

No.	Distal block	Cell Line	Cell type
1	chr15:40615499..40617257-chr15:40732436..40735160,2	K562	blood:
2	chr15:40614221..40619136-chr15:40629898..40635011,9	K562	blood:
3	chr15:40583616..40585723-chr15:40614548..40617090,2	K562	blood:
4	chr15:40616209..40618065-chr15:40641977..40644316,2	MCF-7	breast:
5	chr15:40606578..40610704-chr15:40612489..40616999,9	K562	blood:
6	chr15:40596957..40600729-chr15:40613519..40617071,4	K562	blood:
7	chr15:40615118..40617051-chr15:40729542..40732021,2	K562	blood:
8	chr15:40616336..40620318-chr15:40620739..40624439,7	MCF-7	breast:
9	chr15:40614961..40616867-chr15:40712396..40714190,2	MCF-7	breast:
10	chr15:40573791..40575924-chr15:40613554..40617283,3	MCF-7	breast:
11	chr15:40606578..40609257-chr15:40612890..40617072,4	K562	blood:
12	chr15:40613279..40619250-chr15:40625286..40632667,13	MCF-7	breast:
13	chr15:40599147..40601689-chr15:40614013..40619011,4	K562	blood:
14	chr15:40615847..40616573-chr7:99686271..99687080,2	NB4	blood:
15	chr15:40613668..40617143-chr15:40761466..40764045,3	K562	blood:

Variant related genes	Relation type
LINC00984	TF binding region
ENSG00000168090	Chromatin interaction
ENSG00000230778	Chromatin interaction
ENSG00000252714	Chromatin interaction
ENSG00000140320	Chromatin interaction
ENSG00000137841	Chromatin interaction
ENSG00000188549	Chromatin interaction
ENSG00000169105	Chromatin interaction
ENSG00000233041	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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:126 , 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	chr15:40615000-40616800	Active TSS	Brain Angular Gyrus	brain
8	chr15:40615000-40616800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:40615000-40617000	Active TSS	Brain Anterior Caudate	brain
10	chr15:40615000-40617000	Active TSS	Brain Cingulate Gyrus	brain
11	chr15:40615000-40617200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:40615200-40617000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:40615200-40617000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr15:40615200-40617200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr15:40615200-40617200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr15:40615200-40617800	Active TSS	Right Atrium	heart
17	chr15:40615400-40616600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr15:40615400-40616600	Active TSS	Brain Germinal Matrix	brain
19	chr15:40615400-40616800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:40615400-40616800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr15:40615400-40616800	Active TSS	Fetal Intestine Small	intestine
22	chr15:40615400-40616800	Active TSS	Psoas Muscle	Psoas
23	chr15:40615400-40616800	Active TSS	A549	lung
24	chr15:40615400-40616800	Active TSS	HepG2	liver
25	chr15:40615400-40617000	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr15:40615400-40617000	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr15:40615400-40617000	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr15:40615400-40617000	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr15:40615400-40617000	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr15:40615400-40617000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:40615400-40617000	Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr15:40615400-40617000	Active TSS	Primary T cells from cord blood	blood
33	chr15:40615400-40617000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr15:40615400-40617000	Active TSS	Muscle Satellite Cultured Cells	--
35	chr15:40615400-40617000	Active TSS	Brain Hippocampus Middle	brain
36	chr15:40615400-40617000	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr15:40615400-40617000	Active TSS	Brain Substantia Nigra	brain
38	chr15:40615400-40617000	Active TSS	Fetal Brain Female	brain
39	chr15:40615400-40617000	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr15:40615400-40617000	Active TSS	Rectal Smooth Muscle	rectum
41	chr15:40615400-40617000	Active TSS	NH-A	brain
42	chr15:40615400-40617200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:40615400-40617200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr15:40615400-40617200	Active TSS	Esophagus	oesophagus
45	chr15:40615400-40617200	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr15:40615400-40617600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr15:40615400-40617600	Active TSS	Left Ventricle	heart
48	chr15:40615400-40618000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr15:40615400-40618400	Active TSS	Right Ventricle	heart
50	chr15:40615600-40616600	Active TSS	Primary T cells fromperipheralblood	blood

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