Variant report

Variant	rs567618103
Chromosome Location	chr15:40616637-40616638
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	RAD21	chr15:40616612-40616723	IMR90	lung:	n/a	chr15:40616618-40616630 chr15:40616620-40616630 chr15:40616619-40616632
2	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
3	POLR2A	chr15:40616240-40616931	K562	blood:	n/a	n/a
4	UBTF	chr15:40615366-40616866	K562	blood:	n/a	n/a
5	MAX	chr15:40616238-40616762	ECC-1	luminal epithelium:	n/a	n/a
6	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
7	CTBP2	chr15:40616226-40616999	H1-hESC	embryonic stem cell:	n/a	n/a
8	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
9	POLR2A	chr15:40615647-40616710	IMR90	lung:	n/a	n/a
10	MAX	chr15:40615236-40616750	K562	blood:	n/a	n/a
11	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
12	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
13	POLR2A	chr15:40616444-40616708	HUVEC	blood vessel:	n/a	n/a
14	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
15	ZBTB7A	chr15:40616257-40617061	ECC-1	luminal epithelium:	n/a	chr15:40616443-40616454
16	THAP1	chr15:40616427-40616690	K562	blood:	n/a	n/a
17	SIN3AK20	chr15:40616318-40616710	PANC-1	pancreas:	n/a	n/a
18	E2F6	chr15:40615209-40616745	K562	blood:	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
19	CCNT2	chr15:40615482-40616962	K562	blood:	n/a	chr15:40615823-40615832 chr15:40616915-40616924
20	MAZ	chr15:40614373-40617806	IMR90	lung:	n/a	chr15:40614503-40614513 chr15:40617461-40617470
21	MAX	chr15:40614667-40616807	HepG2	liver:	n/a	n/a
22	ZBTB7A	chr15:40616235-40617096	K562	blood:	n/a	chr15:40616443-40616454 chr15:40616246-40616254
23	YY1	chr15:40615442-40616788	SK-N-SH	brain:	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
24	UBTF	chr15:40615454-40616715	K562	blood:	n/a	n/a
25	YY1	chr15:40615449-40616828	GM12892	blood:	n/a	chr15:40616324-40616336 chr15:40615878-40615892 chr15:40616697-40616706 chr15:40616598-40616612 chr15:40616079-40616093 chr15:40615894-40615914 chr15:40615744-40615758 chr15:40616733-40616744 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
26	MXI1	chr15:40615137-40617187	SK-N-SH	brain:	n/a	n/a
27	SIN3A	chr15:40614717-40617191	H1-hESC	embryonic stem cell:	n/a	chr15:40615806-40615817 chr15:40615521-40615532
28	ELF1	chr15:40616094-40617034	GM12878	blood:	n/a	chr15:40616694-40616703
29	GABPA	chr15:40616111-40616752	K562	blood:	n/a	chr15:40616114-40616123
30	E2F6	chr15:40615415-40616833	K562	blood:	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
31	HMGN3	chr15:40615128-40616989	K562	blood:	n/a	n/a

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	chr15:40613668..40617143-chr15:40761466..40764045,3	K562	blood:

Variant related genes	Relation type
LINC00984	TF binding region
ENSG00000140320	Chromatin interaction
ENSG00000230778	Chromatin interaction
ENSG00000169105	Chromatin interaction
ENSG00000137841	Chromatin interaction
ENSG00000233041	Chromatin interaction
ENSG00000252714	Chromatin interaction
ENSG00000188549	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	chr15:40615400-40616800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:40615400-40616800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr15:40615400-40616800	Active TSS	Fetal Intestine Small	intestine
20	chr15:40615400-40616800	Active TSS	Psoas Muscle	Psoas
21	chr15:40615400-40616800	Active TSS	A549	lung
22	chr15:40615400-40616800	Active TSS	HepG2	liver
23	chr15:40615400-40617000	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr15:40615400-40617000	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr15:40615400-40617000	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr15:40615400-40617000	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr15:40615400-40617000	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr15:40615400-40617000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:40615400-40617000	Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr15:40615400-40617000	Active TSS	Primary T cells from cord blood	blood
31	chr15:40615400-40617000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:40615400-40617000	Active TSS	Muscle Satellite Cultured Cells	--
33	chr15:40615400-40617000	Active TSS	Brain Hippocampus Middle	brain
34	chr15:40615400-40617000	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr15:40615400-40617000	Active TSS	Brain Substantia Nigra	brain
36	chr15:40615400-40617000	Active TSS	Fetal Brain Female	brain
37	chr15:40615400-40617000	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr15:40615400-40617000	Active TSS	Rectal Smooth Muscle	rectum
39	chr15:40615400-40617000	Active TSS	NH-A	brain
40	chr15:40615400-40617200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr15:40615400-40617200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr15:40615400-40617200	Active TSS	Esophagus	oesophagus
43	chr15:40615400-40617200	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr15:40615400-40617600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:40615400-40617600	Active TSS	Left Ventricle	heart
46	chr15:40615400-40618000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr15:40615400-40618400	Active TSS	Right Ventricle	heart
48	chr15:40615600-40616800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr15:40615600-40616800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:40615600-40616800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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