Variant report

Variant	rs11634804
Chromosome Location	chr15:42066537-42066538
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	MAX	chr15:42065843-42067318	GM12878	blood:	n/a	chr15:42067161-42067170 chr15:42067063-42067072 chr15:42067067-42067076
2	CREB1	chr15:42066045-42067231	GM12878	blood:	n/a	n/a
3	TAF1	chr15:42065975-42067079	H1-hESC	embryonic stem cell:	n/a	n/a
4	SP1	chr15:42066242-42067000	HepG2	liver:	n/a	chr15:42066559-42066571 chr15:42066632-42066644 chr15:42066561-42066570 chr15:42066632-42066643 chr15:42066922-42066936 chr15:42066559-42066571 chr15:42066632-42066644 chr15:42066363-42066373 chr15:42066560-42066569 chr15:42066543-42066564 chr15:42066559-42066570
5	PML	chr15:42066132-42066884	GM12878	blood:	n/a	n/a
6	CEBPB	chr15:42066190-42067246	H1-hESC	embryonic stem cell:	n/a	chr15:42066554-42066562
7	POLR2A	chr15:42065986-42067094	NB4	blood:	n/a	n/a
8	TCF7L2	chr15:42066407-42067232	HCT-116	colon:	n/a	n/a
9	POLR2A	chr15:42065989-42067160	GM18951	blood:	n/a	n/a
10	POLR2A	chr15:42066096-42067036	K562	blood:	n/a	n/a
11	PML	chr15:42066221-42066971	K562	blood:	n/a	n/a
12	TCF7L2	chr15:42066248-42067197	PANC-1	pancreas:	n/a	n/a
13	ATF2	chr15:42066046-42066943	GM12878	blood:	n/a	n/a
14	RAD21	chr15:42066354-42067185	H1-hESC	embryonic stem cell:	n/a	chr15:42066702-42066716
15	TEAD4	chr15:42066362-42067038	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr15:42066368-42067095	A549	lung:	n/a	n/a
17	JUND	chr15:42066333-42066921	HepG2	liver:	n/a	n/a
18	POLR2A	chr15:42066007-42067015	K562	blood:	n/a	n/a
19	POLR2A	chr15:42066360-42067133	MCF-7	breast:	n/a	n/a
20	RCOR1	chr15:42066063-42067679	K562	blood:	n/a	n/a
21	MAX	chr15:42066465-42067263	HepG2	liver:	n/a	chr15:42067161-42067170 chr15:42067063-42067072 chr15:42067067-42067076
22	POLR2A	chr15:42066121-42067171	K562	blood:	n/a	n/a
23	CREB1	chr15:42066168-42067352	HepG2	liver:	n/a	n/a
24	REST	chr15:42066459-42067147	H1-neurons	neurons:	n/a	chr15:42066891-42066904
25	JUND	chr15:42065936-42067110	K562	blood:	n/a	n/a
26	MXI1	chr15:42066198-42067288	H1-hESC	embryonic stem cell:	n/a	chr15:42067063-42067078
27	MBD4	chr15:42066258-42067028	HepG2	liver:	n/a	n/a
28	POLR2A	chr15:42066274-42066955	SK-N-MC	brain:	n/a	n/a
29	SRF	chr15:42066252-42066718	HepG2	liver:	n/a	chr15:42066428-42066439 chr15:42066425-42066439 chr15:42066425-42066443 chr15:42066427-42066440
30	SMARCB1	chr15:42066137-42067557	Hela-S3	cervix:	n/a	n/a
31	FOXA1	chr15:42066289-42067020	HepG2	liver:	n/a	n/a
32	POLR2A	chr15:42065990-42067160	GM12891	blood:	n/a	n/a
33	USF2	chr15:42066343-42067155	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr15:42066380-42067289	A549	lung:	n/a	chr15:42067161-42067170 chr15:42067063-42067072 chr15:42067067-42067076
35	POLR2A	chr15:42066251-42067168	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr15:42065979-42067079	K562	blood:	n/a	n/a
37	RFX5	chr15:42066305-42067283	HepG2	liver:	n/a	chr15:42067062-42067077 chr15:42067062-42067075 chr15:42067061-42067078 chr15:42067062-42067077 chr15:42067060-42067074 chr15:42067063-42067072 chr15:42067062-42067077
38	MTA3	chr15:42065614-42067511	GM12878	blood:	n/a	n/a
39	YY1	chr15:42066234-42066988	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr15:42065516-42067278	U87	brain:	n/a	n/a
41	USF2	chr15:42065951-42067315	Hela-S3	cervix:	n/a	n/a
42	HEY1	chr15:42066369-42066867	K562	blood:	n/a	chr15:42066726-42066741
43	ZMIZ1	chr15:42065979-42067026	K562	blood:	n/a	n/a
44	MAX	chr15:42066068-42067383	K562	blood:	n/a	chr15:42067161-42067170 chr15:42067063-42067072 chr15:42067067-42067076
45	CHD1	chr15:42066072-42066876	H1-hESC	embryonic stem cell:	n/a	n/a
46	IRF3	chr15:42066506-42066891	GM12878	blood:	n/a	chr15:42066630-42066644 chr15:42066557-42066571
47	PML	chr15:42064831-42067236	GM12878	blood:	n/a	n/a
48	REST	chr15:42066435-42066921	PFSK-1	brain:	n/a	chr15:42066891-42066904
49	TCF7L2	chr15:42066262-42067415	Hela-S3	cervix:	n/a	n/a
50	BCL3	chr15:42066236-42067335	A549	lung:	n/a	chr15:42066722-42066735 chr15:42066735-42066744 chr15:42066560-42066569 chr15:42067191-42067200 chr15:42066973-42066986 chr15:42066647-42066660

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:42066489-42066539	HMEC	breast:	n/a
2	chr15:42066489-42066539	T-47D	breast:	n/a
3	chr15:42066506-42066556	HEEpiC	esophagus:	n/a
4	chr15:42066506-42066556	AG10803	skin:	n/a
5	chr15:42066506-42066556	NH-A	brain:	n/a
6	chr15:42066506-42066556	MCF-7	breast:	n/a
7	chr15:42066489-42066539	AG09309	skin:	n/a
8	chr15:42066506-42066556	CMK	blood:	n/a
9	chr15:42066506-42066556	GM12892	blood:	n/a
10	chr15:42066489-42066539	SAEC	small airway:	n/a
11	chr15:42066489-42066539	MCF-7	breast:	n/a
12	chr15:42066489-42066539	IMR90	lung:	fetal
13	chr15:42066489-42066539	SKMC	muscle:	n/a
14	chr15:42066506-42066556	HepG2	liver:	n/a
15	chr15:42066506-42066556	HCT-116	colon:	n/a
16	chr15:42066506-42066556	GM12891	blood:	n/a
17	chr15:42066489-42066539	PANC-1	pancreas:	n/a
18	chr15:42066506-42066556	SK-N-SH	brain:	n/a
19	chr15:42066506-42066556	BE2_C	brain:	n/a
20	chr15:42066489-42066539	HCT-116	colon:	n/a
21	chr15:42066506-42066556	GM06990	blood:	n/a
22	chr15:42066506-42066556	HRCEpiC	kidney:	n/a
23	chr15:42066506-42066556	HRPEpiC	eye:	n/a
24	chr15:42066489-42066539	K562	blood:	n/a
25	chr15:42066506-42066556	AG09319	gingival:	n/a
26	chr15:42066506-42066556	H1-hESC	embryonic stem cell:	embryo
27	chr15:42066489-42066539	HIPEpiC	eye:	n/a
28	chr15:42066489-42066539	HAEpiC	amniotic membrane:	n/a
29	chr15:42066506-42066556	HL-60	blood:	n/a
30	chr15:42066489-42066539	HNPCEpiC	eye:	n/a
31	chr15:42066489-42066539	A549	lung:	n/a
32	chr15:42066489-42066539	H1-hESC	embryonic stem cell:	embryo
33	chr15:42066489-42066539	HCM	heart:	n/a
34	chr15:42066489-42066539	Hepatocyte	liver:	n/a
35	chr15:42066489-42066539	GM12878	blood:	n/a
36	chr15:42066506-42066556	Hela-S3	cervix:	n/a
37	chr15:42066489-42066539	PrEC	prostate:	n/a
38	chr15:42066489-42066539	AoSMC	blood vessel:	n/a
39	chr15:42066489-42066539	HepG2	liver:	n/a
40	chr15:42066506-42066556	AG09309	skin:	n/a
41	chr15:42066489-42066539	AG09319	gingival:	n/a
42	chr15:42066489-42066539	SK-N-MC	brain:	n/a
43	chr15:42066506-42066556	NT2-D1	testis:	n/a
44	chr15:42066506-42066556	BJ	skin:	n/a
45	chr15:42066489-42066539	LNCaP	prostate:	n/a
46	chr15:42066489-42066539	HEEpiC	esophagus:	n/a
47	chr15:42066506-42066556	NHDF-neo	bronchial:	n/a
48	chr15:42066506-42066556	U87	brain:	n/a
49	chr15:42066489-42066539	GM06990	blood:	n/a
50	chr15:42066489-42066539	Caco-2	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:42064035..42067811-chr15:42102222..42105290,4	K562	blood:
2	chr15:42063685..42066999-chr15:42102378..42105267,3	MCF-7	breast:
3	chr15:42065876..42068807-chr15:42118615..42122663,5	K562	blood:
4	chr15:42010789..42012329-chr15:42064397..42066596,2	K562	blood:
5	chr15:42065735..42068366-chr15:42158320..42160096,2	K562	blood:
6	chr15:41851361..41854178-chr15:42065182..42067599,2	K562	blood:

Variant related genes	Relation type
ENSG00000260814	TF binding region
MAPKBP1	TF binding region
ENSG00000260814	CpG island
MAPKBP1	CpG island
ENSG00000092445	Chromatin interaction
ENSG00000264850	Chromatin interaction
ENSG00000137802	Chromatin interaction
ENSG00000270702	Chromatin interaction
ENSG00000168970	Chromatin interaction
ENSG00000250379	Chromatin interaction
ENSG00000243789	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1122884	0.91[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11630972	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11631051	0.91[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632519	1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11633160	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11634083	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11634582	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs11636523	0.86[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1197667	0.83[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1197669	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1197671	0.96[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1197672	0.96[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1197702	1.00[ASN][1000 genomes]
rs1197703	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs1197705	0.96[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1197706	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12148570	0.83[EUR][1000 genomes]
rs12906666	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12917387	0.95[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs17677098	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs17677757	0.95[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17678310	0.91[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2178003	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2925339	0.96[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs34621600	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35476790	1.00[ASN][1000 genomes]
rs61104950	0.82[EUR][1000 genomes]
rs62003901	0.81[EUR][1000 genomes]
rs7167078	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7175318	0.82[EUR][1000 genomes]
rs8040094	0.83[EUR][1000 genomes]
rs8042809	0.92[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9646193	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049514	chr15:41958482-42081210	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers 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	17 gene(s)	inside rSNPs	diseases
2	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv1036086	chr15:42004962-42091451	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1054671	chr15:42016097-42098896	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1038894	chr15:42038152-42077452	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2757597	chr15:42047173-42122617	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv2760027	chr15:42047173-42122617	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv904113	chr15:42050390-42118971	Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv904114	chr15:42050390-42119900	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv427958	chr15:42051317-42301283	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11634804	SPTBN5	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42065200-42068000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr15:42065400-42066600	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr15:42065400-42068000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr15:42065600-42067200	Active TSS	H1 Cell Line	embryonic stem cell
5	chr15:42065600-42067400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr15:42065800-42066600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr15:42065800-42066600	Flanking Active TSS	NHEK	skin
8	chr15:42065800-42067400	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr15:42065800-42067600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr15:42065800-42067600	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr15:42065800-42067800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr15:42065800-42067800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:42065800-42069200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr15:42066000-42066600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr15:42066000-42066600	Flanking Active TSS	Fetal Thymus	thymus
16	chr15:42066000-42066600	Flanking Active TSS	HUVEC	blood vessel
17	chr15:42066000-42067000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:42066000-42067200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:42066000-42067200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:42066000-42067200	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr15:42066000-42067200	Active TSS	Brain Substantia Nigra	brain
22	chr15:42066000-42067200	Active TSS	Left Ventricle	heart
23	chr15:42066000-42067400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:42066000-42067400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:42066000-42067400	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr15:42066000-42067400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr15:42066000-42067400	Active TSS	Colon Smooth Muscle	Colon
28	chr15:42066000-42067400	Active TSS	Fetal Brain Male	brain
29	chr15:42066000-42067400	Active TSS	Psoas Muscle	Psoas
30	chr15:42066000-42067400	Active TSS	Right Ventricle	heart
31	chr15:42066000-42067600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:42066000-42067600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr15:42066000-42067600	Active TSS	Fetal Kidney	kidney
34	chr15:42066000-42067600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr15:42066000-42069200	Active TSS	Esophagus	oesophagus
36	chr15:42066200-42066800	Transcr. at gene 5' and 3'	Right Atrium	heart
37	chr15:42066200-42067000	Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr15:42066200-42067000	Active TSS	Colonic Mucosa	Colon
39	chr15:42066200-42067000	Active TSS	Duodenum Mucosa	Duodenum
40	chr15:42066200-42067000	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr15:42066200-42067000	Active TSS	K562	blood
42	chr15:42066200-42067200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr15:42066200-42067200	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr15:42066200-42067200	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr15:42066200-42067200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:42066200-42067200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr15:42066200-42067200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr15:42066200-42067200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr15:42066200-42067200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr15:42066200-42067200	Active TSS	Brain Angular Gyrus	brain

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