Variant report

Variant	rs11158632
Chromosome Location	chr14:24769663-24769664
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr14:24768450-24769709	MCF-7	breast:	n/a	n/a
2	MAX	chr14:24769561-24769921	K562	blood:	n/a	n/a
3	CREB1	chr14:24767821-24770048	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:24768060-24769730	HepG2	liver:	n/a	n/a
5	POLR2A	chr14:24769613-24769870	ECC-1	luminal epithelium:	n/a	n/a
6	ELF1	chr14:24768387-24769692	MCF-7	breast:	n/a	n/a
7	HCFC1	chr14:24768077-24769988	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr14:24768270-24770150	GM12878	blood:	n/a	n/a
9	POLR2A	chr14:24768071-24769943	HL-60	blood:	n/a	n/a
10	WRNIP1	chr14:24769406-24769812	GM12878	blood:	n/a	n/a
11	JUN	chr14:24768679-24769667	K562	blood:	n/a	n/a
12	MYBL2	chr14:24767965-24770192	HepG2	liver:	n/a	n/a
13	CREB1	chr14:24767655-24770253	HepG2	liver:	n/a	n/a
14	NFIC	chr14:24767922-24769686	HepG2	liver:	n/a	n/a
15	MBD4	chr14:24768157-24769759	HepG2	liver:	n/a	n/a
16	MXI1	chr14:24768008-24769911	SK-N-SH	brain:	n/a	n/a
17	MAX	chr14:24768003-24769998	MCF-7	breast:	n/a	n/a
18	MTA3	chr14:24768631-24769884	GM12878	blood:	n/a	n/a
19	POLR2A	chr14:24768261-24770004	K562	blood:	n/a	n/a
20	SIN3A	chr14:24768526-24769772	H1-hESC	embryonic stem cell:	n/a	n/a
21	MXI1	chr14:24767949-24770057	IMR90	lung:	n/a	n/a
22	ZNF263	chr14:24769572-24770032	HEK293-T-REx	kidney:	n/a	chr14:24769851-24769872
23	ELF1	chr14:24768043-24769675	MCF-7	breast:	n/a	n/a
24	MBD4	chr14:24767734-24769920	HepG2	liver:	n/a	n/a

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24769506..24771314-chr14:24788379..24791495,3	K562	blood:
2	chr14:24769037..24771886-chr14:24904413..24906460,2	MCF-7	breast:
3	chr14:24701050..24707093-chr14:24765824..24771703,7	K562	blood:
4	chr14:24680927..24686311-chr14:24766466..24771455,6	K562	blood:
5	chr14:24682270..24687913-chr14:24764870..24771791,12	MCF-7	breast:
6	chr14:24655120..24666858-chr14:24765577..24776253,24	MCF-7	breast:
7	chr14:24767930..24771021-chr14:24792565..24795803,5	MCF-7	breast:
8	chr14:24504090..24505966-chr14:24768791..24770568,2	MCF-7	breast:
9	chr14:24767332..24771774-chr14:24910139..24913002,7	MCF-7	breast:
10	chr14:24767097..24775014-chr14:24779936..24787049,14	MCF-7	breast:
11	chr14:24768153..24769673-chr17:58466663..58469633,2	MCF-7	breast:
12	chr14:24709953..24714493-chr14:24766859..24769769,8	K562	blood:
13	chr14:24765284..24770509-chr14:24899183..24903551,4	MCF-7	breast:
14	chr14:24701050..24705855-chr14:24766597..24769956,4	K562	blood:
15	chr14:24769087..24772179-chr14:24900488..24904117,5	K562	blood:
16	chr14:24768871..24772362-chr14:24798723..24803416,4	MCF-7	breast:
17	chr14:24768412..24770961-chr14:24898867..24900397,2	K562	blood:
18	chr14:24767708..24770495-chr14:24910481..24913051,4	MCF-7	breast:
19	chr14:24759089..24762221-chr14:24766736..24770177,4	MCF-7	breast:
20	chr14:24709953..24713670-chr14:24767111..24769746,6	K562	blood:
21	chr14:24768283..24771076-chr14:24807728..24810560,2	MCF-7	breast:
22	chr14:24629249..24631887-chr14:24767463..24769864,3	MCF-7	breast:
23	chr14:24766804..24771569-chr14:24898237..24903800,5	MCF-7	breast:
24	chr14:24675521..24677265-chr14:24767958..24770679,2	K562	blood:
25	chr14:24673611..24677021-chr14:24767958..24770274,3	K562	blood:
26	chr14:24769018..24771644-chr14:24778129..24781269,3	K562	blood:
27	chr14:24768588..24770601-chr14:24787605..24789791,2	MCF-7	breast:

No data

Variant related genes	Relation type
NOP9	TF binding region
DHRS1	TF binding region
ENSG00000157379	Chromatin interaction
ENSG00000272658	Chromatin interaction
ENSG00000129559	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000170832	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000225766	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000139908	Chromatin interaction
ENSG00000100926	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000100938	Chromatin interaction
ENSG00000213903	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000136305	Chromatin interaction
ENSG00000213906	Chromatin interaction
ENSG00000255526	Chromatin interaction
ENSG00000129465	Chromatin interaction
ENSG00000259522	Chromatin interaction
ENSG00000213928	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000139899	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11158634	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158635	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1131941	1.00[CEU][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12886362	0.85[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144494	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2180196	0.86[GIH][hapmap];0.81[TSI][hapmap]
rs2224122	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2224123	0.84[EUR][1000 genomes]
rs2281472	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs2516564	1.00[ASW][hapmap];0.93[CEU][hapmap];0.95[GIH][hapmap];0.93[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2748543	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3181384	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4280164	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4366641	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4374085	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981503	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981504	0.85[ASW][hapmap];0.86[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901499	chr14:24765622-24787588	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a
4	nsv901500	chr14:24765622-24793762	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs11158632	DHRS1	cis	cerebellum	SCAN
rs11158632	TGM1	cis	cerebellum	SCAN
rs11158632	ANG	cis	parietal	SCAN
rs11158632	DHRS1	cis	parietal	SCAN
rs11158632	NDRG2	cis	parietal	SCAN
rs11158632	LTB4R	cis	lung	GTEx
rs11158632	LTB4R	cis	Thyroid	GTEx
rs11158632	RABGGTA	cis	multi-tissue	Pritchard
rs11158632	LRRC16B	cis	parietal	SCAN
rs11158632	NGDN	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24767800-24770000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
2	chr14:24767800-24770400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr14:24768000-24769800	Active TSS	K562	blood
4	chr14:24768000-24770000	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr14:24768000-24770000	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr14:24768000-24770200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:24768000-24770200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr14:24768000-24770200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr14:24768000-24770200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:24768000-24770400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:24768000-24770400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr14:24768200-24769800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:24768200-24770000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr14:24768200-24770000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
15	chr14:24768200-24770000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:24768200-24770000	Active TSS	Fetal Kidney	kidney
17	chr14:24768200-24770200	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr14:24768200-24770200	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr14:24768200-24770400	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr14:24768400-24769800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr14:24768400-24769800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:24768400-24769800	Active TSS	HSMM	muscle
23	chr14:24768400-24770000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:24768600-24769800	Active TSS	Aorta	Aorta
25	chr14:24768600-24769800	Active TSS	Right Atrium	heart
26	chr14:24768600-24769800	Active TSS	Small Intestine	intestine
27	chr14:24768600-24769800	Active TSS	GM12878-XiMat	blood
28	chr14:24768600-24769800	Active TSS	NHLF	lung
29	chr14:24768600-24770000	Active TSS	A549	lung
30	chr14:24768600-24770000	Active TSS	HSMMtube	muscle
31	chr14:24769200-24769800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:24769200-24770000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr14:24769200-24770200	Flanking Active TSS	Fetal Brain Female	brain
34	chr14:24769400-24769800	Flanking Active TSS	Fetal Heart	heart
35	chr14:24769400-24770000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:24769400-24770000	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr14:24769400-24770000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:24769400-24770000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr14:24769400-24770000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:24769400-24770000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:24769400-24770000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr14:24769400-24770000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:24769400-24770000	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr14:24769400-24770000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr14:24769400-24770000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr14:24769400-24770000	Flanking Active TSS	Placenta	Placenta
47	chr14:24769400-24770000	Flanking Active TSS	Fetal Thymus	thymus
48	chr14:24769400-24770000	Flanking Active TSS	Pancreas	Pancrea
49	chr14:24769400-24770000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
50	chr14:24769400-24770000	Flanking Active TSS	Right Ventricle	heart

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