Variant report

Variant	rs769442
Chromosome Location	chr11:64888955-64888956
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:103)
CpG islands
(count:61)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:103 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64888689-64890125	GM12891	blood:	n/a	n/a
2	POLR2A	chr11:64888279-64890118	HepG2	liver:	n/a	n/a
3	HEY1	chr11:64888709-64890073	K562	blood:	n/a	n/a
4	MXI1	chr11:64888126-64890285	IMR90	lung:	n/a	n/a
5	HCFC1	chr11:64888508-64890292	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:64888717-64890028	K562	blood:	n/a	n/a
7	TCF7L2	chr11:64888758-64889024	PANC-1	pancreas:	n/a	chr11:64888943-64888952
8	MYC	chr11:64888781-64890174	K562	blood:	n/a	chr11:64889407-64889418
9	POLR2A	chr11:64888094-64890053	GM12892	blood:	n/a	n/a
10	MAX	chr11:64888838-64890114	H1-hESC	embryonic stem cell:	n/a	chr11:64889407-64889418
11	CHD1	chr11:64888729-64890177	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:64881694-64890247	PFSK-1	brain:	n/a	n/a
13	CHD2	chr11:64888951-64888963	K562	blood:	n/a	n/a
14	POLR2A	chr11:64888293-64890309	PANC-1	pancreas:	n/a	n/a
15	CHD1	chr11:64888598-64890288	IMR90	lung:	n/a	n/a
16	NR2F2	chr11:64888618-64890122	K562	blood:	n/a	n/a
17	POLR2A	chr11:64888678-64890110	GM12878	blood:	n/a	n/a
18	MYC	chr11:64888776-64890070	NB4	blood:	n/a	chr11:64889407-64889418
19	YY1	chr11:64888843-64890133	K562	blood:	n/a	chr11:64889581-64889598
20	POLR2A	chr11:64888785-64890249	Hela-S3	cervix:	n/a	n/a
21	MTA3	chr11:64888939-64890225	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:64888742-64890184	PBDE	blood:	n/a	n/a
23	CTCF	chr11:64888850-64889366	T-47D	breast:	n/a	n/a
24	CTCF	chr11:64888920-64889070	RPTEC	kidney:	n/a	n/a
25	MYC	chr11:64888799-64890082	K562	blood:	n/a	chr11:64889407-64889418
26	POLR2A	chr11:64888766-64890099	K562	blood:	n/a	n/a
27	POLR2A	chr11:64888760-64890136	K562	blood:	n/a	n/a
28	MAX	chr11:64888875-64888971	HepG2	liver:	n/a	n/a
29	POLR2A	chr11:64887131-64890303	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr11:64888609-64890241	K562	blood:	n/a	n/a
31	YY1	chr11:64888896-64890182	K562	blood:	n/a	chr11:64889581-64889598
32	POLR2A	chr11:64885726-64890254	GM12878	blood:	n/a	n/a
33	CREB1	chr11:64888883-64890164	H1-hESC	embryonic stem cell:	n/a	chr11:64889645-64889658
34	TBP	chr11:64888930-64889084	HepG2	liver:	n/a	n/a
35	YY1	chr11:64888906-64890274	GM12878	blood:	n/a	chr11:64889581-64889598
36	CREB1	chr11:64888850-64890263	HepG2	liver:	n/a	chr11:64889645-64889658
37	ELF1	chr11:64888898-64889977	GM12878	blood:	n/a	chr11:64889600-64889611
38	SIN3A	chr11:64888738-64890182	H1-hESC	embryonic stem cell:	n/a	chr11:64889407-64889416
39	ELF1	chr11:64888870-64889101	K562	blood:	n/a	n/a
40	CTCF	chr11:64888920-64889070	HepG2	liver:	n/a	n/a
41	POLR2A	chr11:64888727-64890164	Hela-S3	cervix:	n/a	n/a
42	MAX	chr11:64888868-64889976	K562	blood:	n/a	chr11:64889407-64889418
43	RCOR1	chr11:64888868-64888980	HepG2	liver:	n/a	n/a
44	POLR2A	chr11:64888765-64889236	ECC-1	luminal epithelium:	n/a	n/a
45	MXI1	chr11:64888812-64889067	HepG2	liver:	n/a	n/a
46	POLR2A	chr11:64888737-64890246	MCF10A-Er-Src	breast:	n/a	n/a
47	MAX	chr11:64888712-64890258	K562	blood:	n/a	chr11:64889407-64889418
48	POLR2A	chr11:64888838-64890239	HCT-116	colon:	n/a	n/a
49	MAX	chr11:64888940-64890022	NB4	blood:	n/a	chr11:64889407-64889418
50	SIN3AK20	chr11:64888639-64890292	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64888932-64888982	Hela-S3	cervix:	n/a
2	chr11:64888932-64888982	IMR90	lung:	fetal
3	chr11:64888932-64888982	SK-N-SH_RA	brain:	n/a
4	chr11:64888932-64888982	PrEC	prostate:	n/a
5	chr11:64888932-64888982	HAEpiC	amniotic membrane:	n/a
6	chr11:64888932-64888982	Caco-2	colon:	n/a
7	chr11:64888932-64888982	NHBE	bronchial:	n/a
8	chr11:64888932-64888982	HCT-116	colon:	n/a
9	chr11:64888932-64888982	HPAEpiC	pulmonary alveolar:	n/a
10	chr11:64888932-64888982	HCF	heart:	n/a
11	chr11:64888932-64888982	ovcar-3	ovarian:	n/a
12	chr11:64888932-64888982	AoSMC	blood vessel:	n/a
13	chr11:64888932-64888982	Hepatocyte	liver:	n/a
14	chr11:64888932-64888982	AG09309	skin:	n/a
15	chr11:64888932-64888982	BJ	skin:	n/a
16	chr11:64888932-64888982	HRPEpiC	eye:	n/a
17	chr11:64888932-64888982	GM12891	blood:	n/a
18	chr11:64888932-64888982	AG04450	lung:	fetal
19	chr11:64888932-64888982	HRE	kidney:	n/a
20	chr11:64888932-64888982	H1-hESC	embryonic stem cell:	embryo
21	chr11:64888932-64888982	HRCEpiC	kidney:	n/a
22	chr11:64888932-64888982	GM19239	blood:	n/a
23	chr11:64888932-64888982	Jurkat	blood:	n/a
24	chr11:64888932-64888982	SK-N-MC	brain:	n/a
25	chr11:64888932-64888982	SAEC	small airway:	n/a
26	chr11:64888932-64888982	ECC-1	luminal epithelium:	n/a
27	chr11:64888932-64888982	CMK	blood:	n/a
28	chr11:64888932-64888982	HL-60	blood:	n/a
29	chr11:64888932-64888982	SKMC	muscle:	n/a
30	chr11:64888932-64888982	HNPCEpiC	eye:	n/a
31	chr11:64888932-64888982	U87	brain:	n/a
32	chr11:64888932-64888982	PFSK-1	brain:	n/a
33	chr11:64888932-64888982	BE2_C	brain:	n/a
34	chr11:64888932-64888982	HEK293	kidney:	embryo
35	chr11:64888932-64888982	NB4	blood:	n/a
36	chr11:64888932-64888982	NT2-D1	testis:	n/a
37	chr11:64888932-64888982	SK-N-SH	brain:	n/a
38	chr11:64888932-64888982	ProgFib	skin:	n/a
39	chr11:64888932-64888982	GM12892	blood:	n/a
40	chr11:64888932-64888982	PANC-1	pancreas:	n/a
41	chr11:64888932-64888982	HCM	heart:	n/a
42	chr11:64888932-64888982	GM06990	blood:	n/a
43	chr11:64888932-64888982	K562	blood:	n/a
44	chr11:64888932-64888982	LNCaP	prostate:	n/a
45	chr11:64888932-64888982	HepG2	liver:	n/a
46	chr11:64888932-64888982	NH-A	brain:	n/a
47	chr11:64888932-64888982	MCF10A-Er-Src	breast:	n/a
48	chr11:64888932-64888982	AG09319	gingival:	n/a
49	chr11:64888932-64888982	A549	lung:	n/a
50	chr11:64888932-64888982	RPTEC	kidney:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64887177..64889563-chr11:64975321..64976932,2	K562	blood:
2	chr11:64544794..64547284-chr11:64888785..64891243,2	MCF-7	breast:
3	chr11:64888409..64891347-chr11:64936765..64941464,6	MCF-7	breast:
4	chr11:64887671..64894047-chr11:64935608..64941283,15	K562	blood:
5	chr11:64887509..64889664-chr11:65266185..65268284,2	MCF-7	breast:
6	chr11:64888081..64892747-chr11:64946823..64951612,8	MCF-7	breast:
7	chr11:64877702..64891058-chr11:64944203..64957091,32	K562	blood:
8	chr11:64887534..64891326-chr11:65027495..65030120,4	MCF-7	breast:
9	chr11:64862442..64864191-chr11:64887487..64890619,3	K562	blood:
10	chr11:64888951..64891503-chr11:64955622..64957144,2	MCF-7	breast:
11	chr11:64887057..64892358-chr11:65027493..65031887,5	K562	blood:
12	chr11:64779895..64782091-chr11:64887695..64889902,3	K562	blood:
13	chr11:64619768..64622619-chr11:64888146..64890410,3	MCF-7	breast:
14	chr11:64888312..64893387-chr11:64951706..64955535,4	K562	blood:
15	chr11:64778507..64787901-chr11:64877920..64890097,31	K562	blood:
16	chr11:64851613..64854142-chr11:64888312..64890882,3	K562	blood:
17	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
18	chr11:64793339..64795778-chr11:64887755..64890095,2	K562	blood:
19	chr11:64883613..64891269-chr11:65027573..65033885,11	K562	blood:
20	chr11:64888451..64891449-chr11:64936430..64939217,7	K562	blood:
21	chr11:64888348..64889154-chr17:41444777..41445641,2	Hela-S3	cervix:
22	chr11:64844285..64846947-chr11:64888337..64891082,3	K562	blood:
23	chr11:64781559..64786098-chr11:64888152..64890441,5	MCF-7	breast:

No data

Variant related genes	Relation type
MRPL49	TF binding region
ZNHIT2	TF binding region
MRPL49	CpG island
ZNHIT2	CpG island
ENSG00000213465	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000249251	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000110025	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000255200	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000270775	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000146670	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs1046912	1.00[ASN][1000 genomes]
rs10792456	0.84[EUR][1000 genomes]
rs11556920	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs11604099	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604621	0.81[AMR][1000 genomes]
rs11604798	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11605583	1.00[EUR][1000 genomes]
rs2458297	0.94[EUR][1000 genomes]
rs33981236	1.00[ASN][1000 genomes]
rs35251366	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35982635	0.94[EUR][1000 genomes]
rs3915452	1.00[EUR][1000 genomes]
rs3915453	1.00[EUR][1000 genomes]
rs608404	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs769442	ARC	trans	brain	seeQTL
rs769442	NPAS4	trans	brain	seeQTL
rs769442	SIK1	trans	brain	seeQTL
rs769442	TRIB1	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64885200-64889000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:64886400-64889000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
3	chr11:64887600-64889000	Transcr. at gene 5' and 3'	Hela-S3	cervix
4	chr11:64887800-64889000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:64887800-64889200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:64888000-64889000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:64888000-64889000	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
8	chr11:64888000-64889400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
9	chr11:64888200-64889000	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
10	chr11:64888200-64889000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
11	chr11:64888200-64889000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
12	chr11:64888200-64889000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
13	chr11:64888200-64889000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
14	chr11:64888200-64889200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:64888200-64889200	Transcr. at gene 5' and 3'	A549	lung
16	chr11:64888200-64889200	Transcr. at gene 5' and 3'	NHEK	skin
17	chr11:64888200-64889400	Transcr. at gene 5' and 3'	Dnd41	blood
18	chr11:64888200-64890000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
19	chr11:64888400-64889000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:64888400-64889000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
21	chr11:64888400-64889000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
22	chr11:64888400-64889000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:64888400-64889000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
24	chr11:64888400-64889000	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
25	chr11:64888400-64889000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
26	chr11:64888400-64889000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
27	chr11:64888400-64889000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:64888400-64889000	Flanking Active TSS	Fetal Heart	heart
29	chr11:64888400-64889000	Transcr. at gene 5' and 3'	K562	blood
30	chr11:64888400-64889000	Transcr. at gene 5' and 3'	NHLF	lung
31	chr11:64888400-64889200	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr11:64888400-64889200	Flanking Active TSS	Fetal Brain Female	brain
33	chr11:64888400-64889200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
34	chr11:64888400-64889200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
35	chr11:64888400-64890000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:64888400-64890600	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr11:64888600-64889000	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
38	chr11:64888600-64889000	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
39	chr11:64888600-64889000	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:64888600-64889000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr11:64888600-64889000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:64888600-64889000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:64888600-64889000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:64888600-64889000	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
45	chr11:64888600-64889000	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
46	chr11:64888600-64889000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:64888600-64889000	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
48	chr11:64888600-64889000	Transcr. at gene 5' and 3'	Brain Cingulate Gyrus	brain
49	chr11:64888600-64889000	Transcr. at gene 5' and 3'	Brain Substantia Nigra	brain
50	chr11:64888600-64889000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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