Variant report

Variant	rs13380031
Chromosome Location	chr15:40650286-40650287
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	SP1	chr15:40650162-40650518	GM12878	blood:	n/a	chr15:40650384-40650393 chr15:40650385-40650394 chr15:40650352-40650373 chr15:40650383-40650395 chr15:40650383-40650395
2	REST	chr15:40650273-40650768	SK-N-SH	brain:	n/a	chr15:40650484-40650498 chr15:40650649-40650658
3	REST	chr15:40650209-40650715	HepG2	liver:	n/a	chr15:40650484-40650498 chr15:40650649-40650658
4	ZBTB7A	chr15:40650032-40650353	K562	blood:	n/a	n/a
5	REST	chr15:40650019-40651433	U87	brain:	n/a	chr15:40650881-40650894 chr15:40650484-40650498 chr15:40650054-40650067 chr15:40650649-40650658
6	NRF1	chr15:40650220-40650605	GM12878	blood:	n/a	chr15:40650415-40650429 chr15:40650412-40650426 chr15:40650415-40650426 chr15:40650415-40650426 chr15:40650417-40650426
7	GABPA	chr15:40649982-40650374	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr15:40650101-40650682	GM12878	blood:	n/a	n/a
9	POLR2A	chr15:40649982-40651429	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr15:40650200-40650585	HUVEC	blood vessel:	n/a	n/a
11	UBTF	chr15:40649945-40650742	K562	blood:	n/a	n/a
12	REST	chr15:40650118-40650752	Hela-S3	cervix:	n/a	chr15:40650484-40650498 chr15:40650649-40650658
13	SIN3AK20	chr15:40650181-40650772	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZBTB7A	chr15:40649978-40651044	ECC-1	luminal epithelium:	n/a	n/a
15	SMARCB1	chr15:40649962-40651106	Hela-S3	cervix:	n/a	n/a
16	REST	chr15:40650176-40651047	HL-60	blood:	n/a	chr15:40650881-40650894 chr15:40650484-40650498 chr15:40650649-40650658
17	MAX	chr15:40649872-40650794	ECC-1	luminal epithelium:	n/a	n/a
18	RFX5	chr15:40650125-40650508	Hela-S3	cervix:	n/a	chr15:40650362-40650371
19	NRF1	chr15:40650215-40650594	H1-hESC	embryonic stem cell:	n/a	chr15:40650415-40650429 chr15:40650412-40650426 chr15:40650415-40650426 chr15:40650415-40650426 chr15:40650417-40650426
20	REST	chr15:40650245-40650723	PFSK-1	brain:	n/a	chr15:40650484-40650498 chr15:40650649-40650658
21	REST	chr15:40649928-40650776	SK-N-SH	brain:	n/a	chr15:40649968-40649981 chr15:40650484-40650498 chr15:40650054-40650067 chr15:40650649-40650658
22	STAT5A	chr15:40650016-40650316	GM12878	blood:	n/a	chr15:40650216-40650224 chr15:40650040-40650052 chr15:40650041-40650053
23	TBP	chr15:40650222-40650377	K562	blood:	n/a	n/a
24	MXI1	chr15:40650113-40651105	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr15:40650180-40650330	K562	blood:	n/a	n/a
26	MAX	chr15:40649910-40650782	H1-hESC	embryonic stem cell:	n/a	n/a
27	NRF1	chr15:40650012-40650763	SK-N-SH	brain:	n/a	chr15:40650415-40650429 chr15:40650412-40650426 chr15:40650415-40650426 chr15:40650415-40650426 chr15:40650417-40650426
28	SP4	chr15:40650197-40650448	H1-hESC	embryonic stem cell:	n/a	n/a
29	REST	chr15:40650052-40651081	H1-hESC	embryonic stem cell:	n/a	chr15:40650881-40650894 chr15:40650484-40650498 chr15:40650054-40650067 chr15:40650649-40650658
30	MXI1	chr15:40649834-40651754	IMR90	lung:	n/a	n/a
31	MAX	chr15:40649895-40650753	MCF-7	breast:	n/a	n/a
32	REST	chr15:40649894-40651045	SK-N-SH	brain:	n/a	chr15:40649968-40649981 chr15:40650881-40650894 chr15:40650484-40650498 chr15:40650054-40650067 chr15:40650649-40650658
33	NFYB	chr15:40650129-40650507	GM12878	blood:	n/a	chr15:40650362-40650372 chr15:40650359-40650374 chr15:40650360-40650374 chr15:40650359-40650374
34	MAX	chr15:40649911-40650764	K562	blood:	n/a	n/a
35	MAX	chr15:40649952-40650728	SK-N-SH	brain:	n/a	n/a
36	YY1	chr15:40650121-40650901	HepG2	liver:	n/a	n/a
37	ELF1	chr15:40650257-40650682	GM12878	blood:	n/a	n/a
38	CTCF	chr15:40650245-40650363	GM19240	blood:	n/a	n/a
39	REST	chr15:40650011-40651581	HL-60	blood:	n/a	chr15:40650881-40650894 chr15:40650484-40650498 chr15:40650054-40650067 chr15:40650649-40650658
40	POLR2A	chr15:40650164-40650312	MCF-7	breast:	n/a	n/a
41	HMGN3	chr15:40650123-40650703	K562	blood:	n/a	n/a
42	MAX	chr15:40649785-40650652	A549	lung:	n/a	n/a
43	REST	chr15:40650191-40650898	GM12878	blood:	n/a	chr15:40650881-40650894 chr15:40650484-40650498 chr15:40650649-40650658
44	MAX	chr15:40649975-40650706	SK-N-SH	brain:	n/a	n/a
45	MAZ	chr15:40649539-40651428	IMR90	lung:	n/a	n/a
46	EP300	chr15:40650153-40650676	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr15:40650140-40650290	AoAF	blood vessel:	n/a	n/a
48	MXI1	chr15:40650231-40650712	GM12878	blood:	n/a	n/a
49	REST	chr15:40650226-40651042	HCT-116	colon:	n/a	chr15:40650881-40650894 chr15:40650484-40650498 chr15:40650649-40650658
50	CTCF	chr15:40650160-40650310	HCPEpiC	choroid plexus:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:40650255-40650305	H1-hESC	embryonic stem cell:	embryo
2	chr15:40650255-40650305	SK-N-SH	brain:	n/a
3	chr15:40650285-40650335	Jurkat	blood:	n/a
4	chr15:40650285-40650335	MCF-7	breast:	n/a
5	chr15:40650285-40650335	T-47D	breast:	n/a
6	chr15:40650255-40650305	HUVEC	blood vessel:	n/a
7	chr15:40650255-40650305	HCPEpiC	choroid plexus:	n/a
8	chr15:40650255-40650305	BE2_C	brain:	n/a
9	chr15:40650285-40650335	HMEC	breast:	n/a
10	chr15:40650285-40650335	K562	blood:	n/a
11	chr15:40650255-40650305	MCF-7	breast:	n/a
12	chr15:40650285-40650335	PANC-1	pancreas:	n/a
13	chr15:40650255-40650305	NB4	blood:	n/a
14	chr15:40650285-40650335	SK-N-SH	brain:	n/a
15	chr15:40650285-40650335	HCF	heart:	n/a
16	chr15:40650255-40650305	HCT-116	colon:	n/a
17	chr15:40650255-40650305	SAEC	small airway:	n/a
18	chr15:40650285-40650335	HRE	kidney:	n/a
19	chr15:40650285-40650335	CMK	blood:	n/a
20	chr15:40650285-40650335	HPAEpiC	pulmonary alveolar:	n/a
21	chr15:40650255-40650305	AG04450	lung:	fetal
22	chr15:40650255-40650305	HNPCEpiC	eye:	n/a
23	chr15:40650255-40650305	HEEpiC	esophagus:	n/a
24	chr15:40650285-40650335	Hela-S3	cervix:	n/a
25	chr15:40650255-40650305	HRE	kidney:	n/a
26	chr15:40650285-40650335	HepG2	liver:	n/a
27	chr15:40650285-40650335	AG04450	lung:	fetal
28	chr15:40650285-40650335	SK-N-MC	brain:	n/a
29	chr15:40650285-40650335	ECC-1	luminal epithelium:	n/a
30	chr15:40650255-40650305	K562	blood:	n/a
31	chr15:40650255-40650305	GM06990	blood:	n/a
32	chr15:40650255-40650305	CMK	blood:	n/a
33	chr15:40650285-40650335	HL-60	blood:	n/a
34	chr15:40650285-40650335	HCM	heart:	n/a
35	chr15:40650255-40650305	HAEpiC	amniotic membrane:	n/a
36	chr15:40650285-40650335	Caco-2	colon:	n/a
37	chr15:40650255-40650305	HCM	heart:	n/a
38	chr15:40650285-40650335	NH-A	brain:	n/a
39	chr15:40650285-40650335	H1-hESC	embryonic stem cell:	embryo
40	chr15:40650255-40650305	AG09319	gingival:	n/a
41	chr15:40650285-40650335	GM12878	blood:	n/a
42	chr15:40650255-40650305	LNCaP	prostate:	n/a
43	chr15:40650285-40650335	SKMC	muscle:	n/a
44	chr15:40650255-40650305	GM12892	blood:	n/a
45	chr15:40650285-40650335	BJ	skin:	n/a
46	chr15:40650255-40650305	HRPEpiC	eye:	n/a
47	chr15:40650255-40650305	U87	brain:	n/a
48	chr15:40650255-40650305	HepG2	liver:	n/a
49	chr15:40650255-40650305	AG10803	skin:	n/a
50	chr15:40650255-40650305	NT2-D1	testis:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40649702..40654099-chr15:40655704..40659247,4	K562	blood:
2	chr15:40648717..40650505-chr15:40656910..40660408,3	MCF-7	breast:

Variant related genes	Relation type
DISP2	TF binding region
DISP2	CpG island
ENSG00000140323	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7173239	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40648800-40651400	Enhancers	Stomach Mucosa	stomach
2	chr15:40649200-40651400	Active TSS	Rectal Smooth Muscle	rectum
3	chr15:40649600-40650400	Flanking Active TSS	Fetal Intestine Large	intestine
4	chr15:40649600-40651000	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr15:40649600-40651400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr15:40649600-40651400	Enhancers	Fetal Heart	heart
7	chr15:40649800-40650400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr15:40649800-40650400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
9	chr15:40649800-40650400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr15:40649800-40650400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr15:40649800-40650400	Flanking Active TSS	Liver	Liver
12	chr15:40649800-40650400	Flanking Active TSS	Fetal Muscle Trunk	muscle
13	chr15:40649800-40650400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr15:40649800-40650400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
15	chr15:40649800-40650800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:40649800-40650800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:40649800-40650800	Active TSS	Brain Hippocampus Middle	brain
18	chr15:40649800-40650800	Active TSS	Right Ventricle	heart
19	chr15:40649800-40651000	Active TSS	H1 Cell Line	embryonic stem cell
20	chr15:40649800-40651000	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr15:40649800-40651000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr15:40649800-40651000	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr15:40649800-40651000	Active TSS	Brain Angular Gyrus	brain
24	chr15:40649800-40651200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr15:40649800-40651200	Active TSS	H9 Cell Line	embryonic stem cell
26	chr15:40649800-40651200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr15:40649800-40651200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:40649800-40651200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr15:40649800-40651200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr15:40649800-40651200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr15:40649800-40651200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr15:40649800-40651200	Active TSS	Brain Germinal Matrix	brain
33	chr15:40649800-40651200	Active TSS	A549	lung
34	chr15:40649800-40651200	Active TSS	Hela-S3	cervix
35	chr15:40649800-40651400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr15:40650000-40650400	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr15:40650000-40650400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr15:40650000-40650400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr15:40650000-40650400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr15:40650000-40650400	Active TSS	Aorta	Aorta
41	chr15:40650000-40650400	Active TSS	Fetal Kidney	kidney
42	chr15:40650000-40650400	Flanking Active TSS	Placenta	Placenta
43	chr15:40650000-40650400	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr15:40650000-40650400	Flanking Active TSS	HSMM	muscle
45	chr15:40650000-40650600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr15:40650000-40650600	Active TSS	Placenta Amnion	Placenta Amnion
47	chr15:40650000-40650800	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr15:40650000-40650800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr15:40650000-40650800	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr15:40650000-40650800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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