Variant report

Variant	rs7171792
Chromosome Location	chr15:82340195-82340196
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	E2F6	chr15:82339235-82340358	H1-hESC	embryonic stem cell:	n/a	chr15:82339365-82339374 chr15:82340172-82340179 chr15:82339707-82339722 chr15:82339325-82339334
2	MYC	chr15:82339123-82340357	H1-hESC	embryonic stem cell:	n/a	n/a
3	REST	chr15:82340100-82340352	Hela-S3	cervix:	n/a	n/a
4	REST	chr15:82336177-82340582	H1-neurons	neurons:	n/a	chr15:82339772-82339792 chr15:82337695-82337715 chr15:82337027-82337040 chr15:82338539-82338549
5	REST	chr15:82339751-82340637	ECC-1	luminal epithelium:	n/a	chr15:82339772-82339792
6	SIN3AK20	chr15:82336778-82340508	MCF-7	breast:	n/a	n/a
7	CTCF	chr15:82338428-82340528	SK-N-SH	brain:	n/a	chr15:82339617-82339630 chr15:82339616-82339632 chr15:82339359-82339372 chr15:82339356-82339369
8	POLR2A	chr15:82338092-82340369	H1-hESC	embryonic stem cell:	n/a	n/a
9	REST	chr15:82339955-82340459	GM12878	blood:	n/a	n/a
10	MAX	chr15:82339367-82340222	ECC-1	luminal epithelium:	n/a	n/a
11	REST	chr15:82339899-82340511	MCF-7	breast:	n/a	n/a
12	MYC	chr15:82338461-82340282	A549	lung:	n/a	chr15:82338617-82338627 chr15:82338600-82338610
13	REST	chr15:82339872-82340620	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr15:82338451-82340568	H1-hESC	embryonic stem cell:	n/a	n/a
15	E2F6	chr15:82338454-82340383	A549	lung:	n/a	chr15:82339365-82339374 chr15:82338606-82338618 chr15:82338836-82338853 chr15:82340172-82340179 chr15:82339707-82339722 chr15:82338836-82338853 chr15:82339325-82339334
16	MAX	chr15:82339747-82340197	ECC-1	luminal epithelium:	n/a	n/a
17	ZNF263	chr15:82336412-82340636	HEK293-T-REx	kidney:	n/a	chr15:82337454-82337463 chr15:82338611-82338620 chr15:82337451-82337460 chr15:82337447-82337468 chr15:82337461-82337470 chr15:82337428-82337437 chr15:82340367-82340376 chr15:82339665-82339674
18	SIN3A	chr15:82335328-82340684	H1-hESC	embryonic stem cell:	n/a	chr15:82339224-82339235 chr15:82339725-82339736 chr15:82337260-82337271 chr15:82337592-82337605 chr15:82339681-82339694 chr15:82337106-82337119 chr15:82340224-82340233 chr15:82337030-82337043 chr15:82339354-82339363 chr15:82339845-82339856
19	MXI1	chr15:82334810-82340509	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr15:82340015-82340575	HUVEC	blood vessel:	n/a	n/a
21	E2F6	chr15:82339399-82340476	H1-hESC	embryonic stem cell:	n/a	chr15:82340172-82340179 chr15:82339707-82339722
22	MAX	chr15:82336692-82340395	A549	lung:	n/a	chr15:82338617-82338627 chr15:82338600-82338610
23	MXI1	chr15:82339176-82340349	H1-hESC	embryonic stem cell:	n/a	n/a
24	JUND	chr15:82339424-82340554	H1-hESC	embryonic stem cell:	n/a	chr15:82340254-82340263
25	POLR2A	chr15:82336372-82340687	H1-hESC	embryonic stem cell:	n/a	n/a
26	REST	chr15:82340011-82340408	PFSK-1	brain:	n/a	n/a
27	CTCF	chr15:82340180-82340330	AG09319	gingival:	n/a	n/a
28	REST	chr15:82340140-82340329	K562	blood:	n/a	n/a
29	CTBP2	chr15:82336776-82340285	H1-hESC	embryonic stem cell:	n/a	n/a
30	REST	chr15:82339907-82340533	PFSK-1	brain:	n/a	n/a
31	REST	chr15:82340116-82340314	GM12878	blood:	n/a	n/a
32	HA-E2F1	chr15:82338585-82340472	MCF-7	breast:	n/a	chr15:82339365-82339374 chr15:82338606-82338618 chr15:82338836-82338853 chr15:82340172-82340179 chr15:82339707-82339722 chr15:82338836-82338853 chr15:82339325-82339334
33	POLR2A	chr15:82337835-82340397	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr15:82338108-82340701	HUVEC	blood vessel:	n/a	n/a
35	CHD1	chr15:82336258-82340453	IMR90	lung:	n/a	chr15:82338136-82338146 chr15:82339436-82339446 chr15:82338609-82338619 chr15:82340172-82340179 chr15:82339681-82339691
36	MAX	chr15:82339681-82340409	H1-hESC	embryonic stem cell:	n/a	n/a
37	REST	chr15:82339490-82340360	A549	lung:	n/a	chr15:82339772-82339792
38	REST	chr15:82340041-82340370	PANC-1	pancreas:	n/a	n/a
39	REST	chr15:82340170-82340255	GM12878	blood:	n/a	n/a
40	MXI1	chr15:82335574-82340453	IMR90	lung:	n/a	n/a
41	JUN	chr15:82338438-82340725	K562	blood:	n/a	chr15:82340254-82340263
42	CHD1	chr15:82339695-82340223	H1-hESC	embryonic stem cell:	n/a	chr15:82340172-82340179
43	REST	chr15:82340104-82340376	K562	blood:	n/a	n/a
44	SIN3AK20	chr15:82340088-82340348	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr15:82338681-82340312	H1-hESC	embryonic stem cell:	n/a	n/a
46	ZNF143	chr15:82338702-82340649	H1-hESC	embryonic stem cell:	n/a	chr15:82339040-82339050 chr15:82339278-82339288
47	REST	chr15:82340150-82340316	HepG2	liver:	n/a	n/a
48	REST	chr15:82339822-82340734	ECC-1	luminal epithelium:	n/a	n/a
49	CHD2	chr15:82339482-82340211	H1-hESC	embryonic stem cell:	n/a	chr15:82340172-82340179 chr15:82339681-82339691
50	MAX	chr15:82337458-82340528	MCF-7	breast:	n/a	chr15:82338617-82338627 chr15:82338600-82338610

No.	Distal block	Cell Line	Cell type
1	chr15:82019963..82021794-chr15:82338805..82341012,2	K562	blood:
2	chr15:82161807..82163789-chr15:82338428..82340595,2	K562	blood:
3	chr15:82313172..82315891-chr15:82338607..82340341,2	MCF-7	breast:
4	chr15:82338618..82340658-chr15:82358570..82360235,2	MCF-7	breast:
5	chr15:82194966..82197509-chr15:82338812..82340977,2	K562	blood:
6	chr15:82338516..82340987-chr15:82386144..82387942,2	MCF-7	breast:
7	chr11:64877977..64880621-chr15:82337934..82340842,2	MCF-7	breast:
8	chr15:82303791..82305649-chr15:82338630..82341531,2	MCF-7	breast:

Variant related genes	Relation type
MEX3B	TF binding region
ENSG00000259692	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000149809	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11853590	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11855070	0.81[ASN][1000 genomes]
rs11855637	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12902481	0.91[CEU][hapmap];0.86[MEX][hapmap]
rs12902907	0.83[CEU][hapmap]
rs2089009	0.85[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs2867552	0.92[CHB][hapmap]
rs34590775	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4325512	0.83[CEU][hapmap]
rs4778972	0.85[CHB][hapmap];0.87[CHD][hapmap];0.87[JPT][hapmap]
rs55732978	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs67261534	0.80[ASN][1000 genomes]
rs7162281	0.99[ASN][1000 genomes]
rs73439249	0.91[ASN][1000 genomes]
rs73439254	0.92[ASN][1000 genomes]
rs8030769	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8031443	0.81[CEU][hapmap]
rs8041457	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833067	chr15:82234980-82450485	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2422504	chr15:82293064-82426400	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv827415	chr15:82333348-82340769	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv3344827	chr15:82334647-82340995	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	esv3440467	chr15:82337922-82340770	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3396541	chr15:82338522-82341070	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82335000-82340600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr15:82335400-82340400	Active TSS	HSMMtube	muscle
3	chr15:82335400-82340600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr15:82335400-82341200	Active TSS	Fetal Kidney	kidney
5	chr15:82335600-82340600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr15:82335800-82340400	Active TSS	Colon Smooth Muscle	Colon
7	chr15:82336200-82340200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:82336200-82340200	Active TSS	NHLF	lung
9	chr15:82336200-82340400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr15:82336200-82340400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:82336200-82340400	Active TSS	HSMM	muscle
12	chr15:82336400-82340400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr15:82336400-82340400	Active TSS	Ovary	ovary
14	chr15:82336600-82340200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr15:82336600-82340200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr15:82336600-82340200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:82336600-82340200	Active TSS	Aorta	Aorta
18	chr15:82336600-82340200	Active TSS	Rectal Smooth Muscle	rectum
19	chr15:82336600-82340400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:82336600-82340400	Active TSS	Psoas Muscle	Psoas
21	chr15:82336600-82340400	Active TSS	A549	lung
22	chr15:82336800-82340200	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr15:82336800-82340200	Active TSS	Brain Angular Gyrus	brain
24	chr15:82336800-82340200	Active TSS	Fetal Lung	lung
25	chr15:82336800-82340200	Active TSS	Right Atrium	heart
26	chr15:82336800-82340200	Active TSS	Thymus	Thymus
27	chr15:82336800-82340400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr15:82336800-82340400	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr15:82336800-82340400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr15:82336800-82340600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:82336800-82340600	Active TSS	NH-A	brain
32	chr15:82337000-82340200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:82337000-82340200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr15:82337000-82340400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr15:82337000-82340400	Active TSS	Left Ventricle	heart
36	chr15:82337000-82340600	Active TSS	Brain Anterior Caudate	brain
37	chr15:82337200-82340200	Active TSS	Brain Cingulate Gyrus	brain
38	chr15:82337200-82340400	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr15:82337400-82340200	Active TSS	Brain Hippocampus Middle	brain
40	chr15:82337400-82340200	Active TSS	Esophagus	oesophagus
41	chr15:82337400-82340200	Active TSS	Gastric	stomach
42	chr15:82337600-82340200	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr15:82337600-82340200	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr15:82337600-82340400	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr15:82337800-82340200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr15:82337800-82340200	Active TSS	Placenta Amnion	Placenta Amnion
47	chr15:82338200-82340200	Active TSS	Brain Germinal Matrix	brain
48	chr15:82338200-82340400	Active TSS	Fetal Brain Female	brain
49	chr15:82338800-82340200	Active TSS	Fetal Brain Male	brain
50	chr15:82338800-82340200	Active TSS	Fetal Heart	heart

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