Variant report

Variant	rs2047866
Chromosome Location	chr15:76136194-76136195
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	chr15:76135623-76136854	GM12891	blood:	n/a	chr15:76135698-76135707 chr15:76135771-76135780 chr15:76135848-76135860 chr15:76135849-76135859 chr15:76135772-76135786 chr15:76135847-76135864 chr15:76135736-76135745 chr15:76136291-76136305
2	SIN3A	chr15:76135001-76137189	H1-hESC	embryonic stem cell:	n/a	chr15:76136504-76136515 chr15:76135370-76135383
3	PML	chr15:76135264-76136502	MCF-7	breast:	n/a	n/a
4	E2F6	chr15:76134880-76137011	A549	lung:	n/a	chr15:76136869-76136883 chr15:76135734-76135744 chr15:76135527-76135537 chr15:76135698-76135707 chr15:76135852-76135867
5	SIN3AK20	chr15:76135947-76136330	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr15:76135017-76136270	K562	blood:	n/a	n/a
7	UBTF	chr15:76134889-76137254	K562	blood:	n/a	n/a
8	ELF1	chr15:76135301-76136282	K562	blood:	n/a	chr15:76135878-76135890
9	YY1	chr15:76135214-76136403	ECC-1	luminal epithelium:	n/a	chr15:76135438-76135452 chr15:76135698-76135707 chr15:76135771-76135780 chr15:76135848-76135860 chr15:76135849-76135859 chr15:76135772-76135786 chr15:76135847-76135864 chr15:76135736-76135745 chr15:76136291-76136305
10	MXI1	chr15:76134486-76137522	IMR90	lung:	n/a	n/a
11	POLR2A	chr15:76135010-76136490	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr15:76132928-76136942	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr15:76135701-76136251	GM12891	blood:	n/a	n/a
14	POLR2A	chr15:76134967-76136428	HL-60	blood:	n/a	n/a
15	MAX	chr15:76135012-76136323	K562	blood:	n/a	n/a
16	POLR2A	chr15:76135050-76136594	H1-neurons	neurons:	n/a	n/a
17	SIN3AK20	chr15:76136155-76136769	K562	blood:	n/a	n/a
18	HEY1	chr15:76135013-76136495	K562	blood:	n/a	chr15:76135764-76135779 chr15:76135767-76135782
19	POLR2A	chr15:76135073-76136856	K562	blood:	n/a	n/a
20	POLR2A	chr15:76134962-76136883	IMR90	lung:	n/a	n/a
21	SP1	chr15:76135975-76136906	A549	lung:	n/a	chr15:76136292-76136301 chr15:76136302-76136314 chr15:76136302-76136314 chr15:76136368-76136382 chr15:76136308-76136315 chr15:76136303-76136312
22	TBP	chr15:76135097-76136950	K562	blood:	n/a	n/a
23	MAX	chr15:76135136-76137105	HCT-116	colon:	n/a	n/a
24	TAF1	chr15:76135705-76136277	HepG2	liver:	n/a	n/a
25	BACH1	chr15:76135149-76136412	H1-hESC	embryonic stem cell:	n/a	n/a
26	MXI1	chr15:76135094-76136900	GM12878	blood:	n/a	n/a
27	POLR2A	chr15:76135233-76136494	Gliobla	brain:	n/a	n/a
28	STAT5A	chr15:76135976-76136833	GM12878	blood:	n/a	n/a
29	YY1	chr15:76135067-76136639	GM12878	blood:	n/a	chr15:76135438-76135452 chr15:76135698-76135707 chr15:76135771-76135780 chr15:76135848-76135860 chr15:76135849-76135859 chr15:76135772-76135786 chr15:76135847-76135864 chr15:76135736-76135745 chr15:76136291-76136305
30	CTCF	chr15:76136193-76136281	GM19240	blood:	n/a	n/a
31	MAZ	chr15:76134565-76137751	IMR90	lung:	n/a	n/a
32	MAX	chr15:76134414-76137112	A549	lung:	n/a	n/a
33	MYC	chr15:76135144-76136392	MCF-7	breast:	n/a	n/a
34	POLR2A	chr15:76135445-76136583	HCT-116	colon:	n/a	n/a
35	CREB1	chr15:76135020-76136791	HepG2	liver:	n/a	n/a
36	POLR2A	chr15:76135060-76136909	A549	lung:	n/a	n/a
37	MAX	chr15:76135071-76137062	SK-N-SH	brain:	n/a	n/a
38	RCOR1	chr15:76135914-76137066	GM12878	blood:	n/a	n/a
39	POLR2A	chr15:76135015-76136528	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr15:76134852-76137080	H1-hESC	embryonic stem cell:	n/a	n/a
41	TCF7L2	chr15:76135663-76136740	PANC-1	pancreas:	n/a	n/a
42	POLR2A	chr15:76135188-76137523	GM12878	blood:	n/a	n/a
43	YY1	chr15:76135228-76136638	GM12878	blood:	n/a	chr15:76135438-76135452 chr15:76135698-76135707 chr15:76135771-76135780 chr15:76135848-76135860 chr15:76135849-76135859 chr15:76135772-76135786 chr15:76135847-76135864 chr15:76135736-76135745 chr15:76136291-76136305
44	CTCF	chr15:76136120-76136270	GM12865	blood:	n/a	n/a
45	POU2F2	chr15:76135685-76136468	GM12878	blood:	n/a	chr15:76135701-76135713 chr15:76135774-76135786
46	YY1	chr15:76135169-76136680	GM12892	blood:	n/a	chr15:76135438-76135452 chr15:76135698-76135707 chr15:76135771-76135780 chr15:76135848-76135860 chr15:76135849-76135859 chr15:76135772-76135786 chr15:76135847-76135864 chr15:76135736-76135745 chr15:76136291-76136305
47	POLR2A	chr15:76135714-76136379	GM12892	blood:	n/a	n/a
48	POLR2A	chr15:76135500-76136277	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr15:76134964-76136915	K562	blood:	n/a	n/a
50	MYC	chr15:76134679-76137003	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:76135545..76137145-chr15:76186509..76188555,3	MCF-7	breast:
2	chr12:69081083..69082998-chr15:76135423..76138290,2	MCF-7	breast:
3	chr15:76133681..76139746-chr15:76193985..76199740,23	MCF-7	breast:
4	chr15:76133451..76137775-chr15:76156108..76161375,6	MCF-7	breast:
5	chr1:172412703..172413401-chr15:76135877..76136831,2	Hela-S3	cervix:
6	chr15:76066670..76069216-chr15:76135374..76137197,2	MCF-7	breast:
7	chr15:76134186..76138083-chr15:76192925..76200499,13	K562	blood:
8	chr15:76135754..76137278-chr15:76196181..76197882,2	K562	blood:
9	chr15:76135493..76137289-chr15:76195431..76198634,3	MCF-7	breast:
10	chr15:76134992..76136572-chr15:76350644..76353343,2	MCF-7	breast:
11	chr15:75917263..75918956-chr15:76135075..76137725,2	K562	blood:

Variant related genes	Relation type
UBE2Q2	TF binding region
ENSG00000169371	Chromatin interaction
ENSG00000111581	Chromatin interaction
ENSG00000169752	Chromatin interaction
ENSG00000266308	Chromatin interaction
ENSG00000135845	Chromatin interaction
ENSG00000187812	Chromatin interaction
ENSG00000247363	Chromatin interaction
ENSG00000140367	Chromatin interaction
ENSG00000169758	Chromatin interaction
ENSG00000167196	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10444856	0.80[EUR][1000 genomes]
rs11072562	0.90[EUR][1000 genomes]
rs12437816	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12593806	0.93[EUR][1000 genomes]
rs1874953	0.81[EUR][1000 genomes]
rs1976748	0.91[EUR][1000 genomes]
rs2201917	0.88[EUR][1000 genomes]
rs28525382	0.92[EUR][1000 genomes]
rs28550045	0.93[EUR][1000 genomes]
rs28607641	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs335685	0.85[EUR][1000 genomes]
rs4886466	0.88[EUR][1000 genomes]
rs4886748	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7177266	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1044733	chr15:76120924-76228880	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3438606	chr15:76134422-76137270	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2047866	NRG4	cis	frontal cortex	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76134800-76136200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr15:76134800-76136200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr15:76134800-76136600	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr15:76134800-76137000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr15:76134800-76137200	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr15:76134800-76137400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:76134800-76137400	Active TSS	Psoas Muscle	Psoas
8	chr15:76134800-76140400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:76135000-76136200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr15:76135000-76136400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:76135000-76136600	Active TSS	Liver	Liver
12	chr15:76135000-76136800	Active TSS	Primary T cells from cord blood	blood
13	chr15:76135000-76136800	Active TSS	Brain Substantia Nigra	brain
14	chr15:76135000-76136800	Active TSS	Colonic Mucosa	Colon
15	chr15:76135000-76137000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:76135000-76137000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:76135000-76137000	Active TSS	Brain Angular Gyrus	brain
18	chr15:76135000-76137000	Active TSS	Brain Anterior Caudate	brain
19	chr15:76135000-76137000	Active TSS	Brain Cingulate Gyrus	brain
20	chr15:76135000-76137000	Active TSS	Brain Hippocampus Middle	brain
21	chr15:76135000-76137000	Active TSS	Colon Smooth Muscle	Colon
22	chr15:76135000-76137000	Active TSS	Fetal Kidney	kidney
23	chr15:76135000-76137000	Active TSS	Gastric	stomach
24	chr15:76135000-76137000	Active TSS	Left Ventricle	heart
25	chr15:76135000-76137000	Active TSS	Rectal Smooth Muscle	rectum
26	chr15:76135000-76137000	Active TSS	Stomach Smooth Muscle	stomach
27	chr15:76135000-76137000	Active TSS	A549	lung
28	chr15:76135000-76137200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:76135000-76137400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr15:76135000-76137400	Active TSS	Muscle Satellite Cultured Cells	--
31	chr15:76135000-76137400	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr15:76135000-76137400	Active TSS	Ovary	ovary
33	chr15:76135000-76137400	Active TSS	HSMMtube	muscle
34	chr15:76135000-76137400	Active TSS	NHDF-Ad	bronchial
35	chr15:76135000-76137400	Active TSS	NHLF	lung
36	chr15:76135000-76137600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr15:76135000-76137600	Active TSS	H9 Cell Line	embryonic stem cell
38	chr15:76135000-76137600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr15:76135200-76136200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
40	chr15:76135200-76136400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr15:76135200-76136600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr15:76135200-76136600	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr15:76135200-76136800	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr15:76135200-76137000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr15:76135200-76137000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:76135200-76137000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr15:76135200-76137000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr15:76135200-76137000	Active TSS	Fetal Brain Female	brain
49	chr15:76135200-76137000	Active TSS	Fetal Lung	lung
50	chr15:76135200-76137000	Active TSS	Lung	lung

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