Variant report

Variant	rs11550571
Chromosome Location	chr15:77363271-77363272
allele	C/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	POLR2A	chr15:77362566-77363799	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr15:77363129-77363675	HEK293	kidney:	n/a	n/a
3	POLR2A	chr15:77362661-77363665	GM12892	blood:	n/a	n/a
4	ZBTB7A	chr15:77363235-77363540	HepG2	liver:	n/a	n/a
5	REST	chr15:77363225-77363565	HepG2	liver:	n/a	n/a
6	POLR2A	chr15:77363214-77363666	GM12891	blood:	n/a	n/a
7	POU2F2	chr15:77363248-77363490	GM12878	blood:	n/a	chr15:77363435-77363447
8	POLR2A	chr15:77362812-77363834	Raji	blood:	n/a	n/a
9	MAZ	chr15:77362078-77364243	IMR90	lung:	n/a	chr15:77363522-77363531 chr15:77362963-77362972
10	POLR2A	chr15:77361656-77363688	MCF10A-Er-Src	breast:	n/a	n/a
11	NRF1	chr15:77363257-77363668	GM12878	blood:	n/a	chr15:77363463-77363474 chr15:77363414-77363425
12	TBP	chr15:77363239-77363637	HepG2	liver:	n/a	chr15:77363583-77363594
13	POLR2A	chr15:77363194-77363658	GM10847	blood:	n/a	n/a
14	POLR2A	chr15:77362725-77363678	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr15:77363174-77363622	K562	blood:	n/a	n/a
16	MAX	chr15:77362768-77363668	K562	blood:	n/a	chr15:77363522-77363531 chr15:77362963-77362972
17	TAF1	chr15:77363058-77363792	H1-hESC	embryonic stem cell:	n/a	n/a
18	E2F6	chr15:77363190-77363793	A549	lung:	n/a	chr15:77363543-77363552 chr15:77363605-77363612 chr15:77363467-77363477
19	EGR1	chr15:77362791-77363284	K562	blood:	n/a	n/a
20	POLR2A	chr15:77362663-77363727	GM18505	blood:	n/a	n/a
21	HEY1	chr15:77363153-77363627	K562	blood:	n/a	chr15:77363398-77363413
22	POLR2A	chr15:77363136-77363686	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr15:77363143-77363605	GM12892	blood:	n/a	n/a
24	MAX	chr15:77363246-77363756	H1-hESC	embryonic stem cell:	n/a	chr15:77363522-77363531
25	POLR2A	chr15:77363136-77363737	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr15:77363168-77363623	HepG2	liver:	n/a	n/a
27	MAZ	chr15:77362701-77363768	GM12878	blood:	n/a	chr15:77363522-77363531 chr15:77362963-77362972
28	SP1	chr15:77363239-77363801	GM12878	blood:	n/a	chr15:77363517-77363526 chr15:77363516-77363527
29	POLR2A	chr15:77363167-77363633	GM12878	blood:	n/a	n/a
30	TAF1	chr15:77363209-77363630	PFSK-1	brain:	n/a	n/a
31	REST	chr15:77363230-77363497	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr15:77361797-77363764	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr15:77363048-77363721	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr15:77363146-77363614	H1-hESC	embryonic stem cell:	n/a	n/a
35	TAF1	chr15:77363159-77363624	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr15:77362641-77363687	K562	blood:	n/a	n/a
37	FOXP2	chr15:77362706-77363690	PFSK-1	brain:	n/a	n/a
38	TAF1	chr15:77363184-77363578	H1-neurons	neurons:	n/a	n/a
39	RUNX3	chr15:77363179-77363804	GM12878	blood:	n/a	n/a
40	YY1	chr15:77363144-77363522	HepG2	liver:	n/a	chr15:77363362-77363371 chr15:77363463-77363474 chr15:77363362-77363376 chr15:77363399-77363413 chr15:77363357-77363367 chr15:77363408-77363419
41	POLR2A	chr15:77363225-77363787	PBDE	blood:	n/a	n/a
42	ZNF263	chr15:77361810-77363810	HEK293-T-REx	kidney:	n/a	chr15:77362104-77362125 chr15:77362118-77362127 chr15:77362103-77362112 chr15:77362055-77362064
43	HEY1	chr15:77363177-77363680	K562	blood:	n/a	chr15:77363398-77363413
44	POLR2A	chr15:77362774-77363683	GM18526	blood:	n/a	n/a
45	POLR2A	chr15:77362681-77363610	HL-60	blood:	n/a	n/a
46	POLR2A	chr15:77362880-77363761	NB4	blood:	n/a	n/a
47	MXI1	chr15:77362487-77364143	IMR90	lung:	n/a	n/a
48	MAX	chr15:77363061-77363942	HCT-116	colon:	n/a	chr15:77363522-77363531
49	ZMIZ1	chr15:77363252-77363687	K562	blood:	n/a	n/a
50	POLR2A	chr15:77363146-77363633	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:77195708..77198409-chr15:77360659..77363583,2	K562	blood:
2	chr15:77362899..77363478-chr4:88141336..88142074,2	NB4	blood:
3	chr15:77334559..77338244-chr15:77361377..77364599,4	K562	blood:
4	chr15:77362106..77364633-chr15:77375983..77377903,3	MCF-7	breast:
5	chr15:76602919..76604847-chr15:77361875..77364736,2	K562	blood:
6	chr12:122240911..122241575-chr15:77363083..77363808,2	NB4	blood:
7	chr15:77196909..77199186-chr15:77360659..77363469,2	K562	blood:
8	chr15:77320639..77324428-chr15:77362244..77364696,3	K562	blood:
9	chr15:77357220..77360797-chr15:77361367..77364060,6	MCF-7	breast:
10	chr15:77359065..77361270-chr15:77362713..77364449,3	K562	blood:
11	chr15:77334649..77338471-chr15:77361377..77364899,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PEAK1.1-3	chr15:77363234-77363434	NONHSAT047422

Variant related genes	Relation type
ENSG00000269951	TF binding region
ENSG00000259652	Chromatin interaction
ENSG00000140368	Chromatin interaction
ENSG00000140386	Chromatin interaction
ENSG00000269951	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000140391	Chromatin interaction
ENSG00000145332	Chromatin interaction
ENSG00000260787	Chromatin interaction
ENSG00000140374	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3367577	chr15:77015618-77442634	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	esv2758388	chr15:77170550-77373448	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv2760041	chr15:77170550-77373448	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv833058	chr15:77235895-77393640	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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	14 gene(s)	inside rSNPs	diseases
7	nsv517068	chr15:77254544-77381222	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv904414	chr15:77304310-77400388	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1045376	chr15:77354671-77801487	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv542443	chr15:77354671-77801487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	esv3423899	chr15:77362122-77364670	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77361400-77363600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr15:77361600-77363600	Active TSS	Fetal Intestine Large	intestine
3	chr15:77361600-77363800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr15:77361800-77363400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:77361800-77363400	Active TSS	Fetal Muscle Trunk	muscle
6	chr15:77361800-77363600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr15:77361800-77363600	Active TSS	Ovary	ovary
8	chr15:77361800-77363600	Active TSS	Pancreas	Pancrea
9	chr15:77361800-77363600	Active TSS	NHDF-Ad	bronchial
10	chr15:77362000-77363400	Active TSS	Stomach Mucosa	stomach
11	chr15:77362000-77363600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:77362000-77363600	Active TSS	Lung	lung
13	chr15:77362200-77363400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:77362200-77363400	Active TSS	Esophagus	oesophagus
15	chr15:77362200-77363600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:77362200-77363600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr15:77362200-77363600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:77362200-77363600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:77362200-77363600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr15:77362200-77363600	Active TSS	Brain Germinal Matrix	brain
21	chr15:77362200-77363600	Active TSS	Gastric	stomach
22	chr15:77362200-77363600	Active TSS	Left Ventricle	heart
23	chr15:77362200-77363600	Active TSS	Stomach Smooth Muscle	stomach
24	chr15:77362200-77363600	Active TSS	NHLF	lung
25	chr15:77362400-77363400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr15:77362400-77363400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:77362400-77363400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr15:77362400-77363400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr15:77362400-77363400	Active TSS	Fetal Muscle Leg	muscle
30	chr15:77362400-77363400	Active TSS	Fetal Stomach	stomach
31	chr15:77362400-77363600	Active TSS	H1 Cell Line	embryonic stem cell
32	chr15:77362400-77363600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr15:77362400-77363600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:77362400-77363600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr15:77362400-77363600	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr15:77362400-77363600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr15:77362400-77363600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr15:77362400-77363600	Active TSS	Muscle Satellite Cultured Cells	--
39	chr15:77362400-77363600	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr15:77362400-77363600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr15:77362400-77363600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr15:77362400-77363600	Active TSS	Aorta	Aorta
43	chr15:77362400-77363600	Active TSS	Brain Angular Gyrus	brain
44	chr15:77362400-77363600	Active TSS	Brain Hippocampus Middle	brain
45	chr15:77362400-77363600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr15:77362400-77363600	Active TSS	Psoas Muscle	Psoas
47	chr15:77362400-77363600	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr15:77362400-77363600	Active TSS	Right Ventricle	heart
49	chr15:77362400-77363600	Active TSS	Spleen	Spleen
50	chr15:77362400-77363600	Active TSS	A549	lung

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