Variant report

Variant	rs11236236
Chromosome Location	chr11:74442931-74442932
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr11:74442485-74442940	H1-hESC	embryonic stem cell:	n/a	chr11:74442700-74442709
2	E2F6	chr11:74442414-74442972	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZBTB7A	chr11:74442429-74442938	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr11:74442379-74442940	H1-hESC	embryonic stem cell:	n/a	chr11:74442700-74442709
5	MAX	chr11:74442758-74443017	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:74442900-74442950	NHDF-neo	bronchial:	n/a
2	chr11:74442900-74442950	IMR90	lung:	fetal
3	chr11:74442900-74442950	SK-N-SH	brain:	n/a
4	chr11:74442900-74442950	NH-A	brain:	n/a
5	chr11:74442900-74442950	HMEC	breast:	n/a
6	chr11:74442900-74442950	HCPEpiC	choroid plexus:	n/a
7	chr11:74442900-74442950	SAEC	small airway:	n/a
8	chr11:74442900-74442950	ECC-1	luminal epithelium:	n/a
9	chr11:74442900-74442950	U87	brain:	n/a
10	chr11:74442900-74442950	PFSK-1	brain:	n/a
11	chr11:74442900-74442950	H1-hESC	embryonic stem cell:	embryo
12	chr11:74442900-74442950	LNCaP	prostate:	n/a
13	chr11:74442900-74442950	NT2-D1	testis:	n/a
14	chr11:74442900-74442950	Hepatocyte	liver:	n/a
15	chr11:74442900-74442950	ovcar-3	ovarian:	n/a
16	chr11:74442900-74442950	HPAEpiC	pulmonary alveolar:	n/a
17	chr11:74442900-74442950	SK-N-MC	brain:	n/a
18	chr11:74442900-74442950	HRCEpiC	kidney:	n/a
19	chr11:74442900-74442950	HCM	heart:	n/a
20	chr11:74442900-74442950	GM12892	blood:	n/a
21	chr11:74442900-74442950	PrEC	prostate:	n/a
22	chr11:74442900-74442950	HCF	heart:	n/a
23	chr11:74442900-74442950	NB4	blood:	n/a
24	chr11:74442900-74442950	ProgFib	skin:	n/a
25	chr11:74442900-74442950	HEEpiC	esophagus:	n/a
26	chr11:74442900-74442950	HAEpiC	amniotic membrane:	n/a
27	chr11:74442900-74442950	AoSMC	blood vessel:	n/a
28	chr11:74442900-74442950	AG10803	skin:	n/a
29	chr11:74442900-74442950	CMK	blood:	n/a
30	chr11:74442900-74442950	PANC-1	pancreas:	n/a
31	chr11:74442900-74442950	Hela-S3	cervix:	n/a
32	chr11:74442900-74442950	T-47D	breast:	n/a
33	chr11:74442900-74442950	Caco-2	colon:	n/a
34	chr11:74442900-74442950	GM19239	blood:	n/a
35	chr11:74442900-74442950	HRE	kidney:	n/a
36	chr11:74442900-74442950	AG09309	skin:	n/a
37	chr11:74442900-74442950	Jurkat	blood:	n/a
38	chr11:74442900-74442950	HL-60	blood:	n/a
39	chr11:74442900-74442950	RPTEC	kidney:	n/a
40	chr11:74442900-74442950	HIPEpiC	eye:	n/a
41	chr11:74442900-74442950	HRPEpiC	eye:	n/a
42	chr11:74442900-74442950	HEK293	kidney:	embryo
43	chr11:74442900-74442950	A549	lung:	n/a
44	chr11:74442900-74442950	HUVEC	blood vessel:	n/a
45	chr11:74442900-74442950	BE2_C	brain:	n/a
46	chr11:74442900-74442950	AG04450	lung:	fetal
47	chr11:74442900-74442950	HepG2	liver:	n/a
48	chr11:74442900-74442950	HCT-116	colon:	n/a
49	chr11:74442900-74442950	HNPCEpiC	eye:	n/a
50	chr11:74442900-74442950	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:74440853..74443969-chr11:74454724..74458008,3	K562	blood:
2	chr11:74441741..74443246-chr11:74464573..74467415,2	K562	blood:
3	chr11:74442292..74444632-chr11:74458905..74460559,2	K562	blood:

No data

Variant related genes	Relation type
CHRDL2	TF binding region
CHRDL2	CpG island
ENSG00000227615	Chromatin interaction
ENSG00000264095	Chromatin interaction
ENSG00000166439	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 24 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10899041	0.99[ASN][1000 genomes]
rs10899042	0.91[CHD][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs11236233	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11236234	0.93[ASN][1000 genomes]
rs12223076	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12223417	1.00[CEU][hapmap];0.86[CHB][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12417156	0.87[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12419197	0.83[ASN][1000 genomes]
rs12419371	0.86[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs12576444	0.86[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs1433771	0.86[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs17133461	0.84[CHD][hapmap]
rs4483614	0.84[CHD][hapmap]
rs4944943	0.93[ASN][1000 genomes]
rs4944944	0.86[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs4944947	0.91[CHD][hapmap];0.86[ASN][1000 genomes]
rs4944950	0.84[CHD][hapmap]
rs55837439	0.90[ASN][1000 genomes]
rs56187629	0.90[ASN][1000 genomes]
rs61897000	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592594	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7103136	0.90[CHD][hapmap]
rs7948433	0.83[CEU][hapmap];0.88[CHD][hapmap];0.86[MEX][hapmap]
rs968305	0.88[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.80[EUR][1000 genomes];0.93[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	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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	83 gene(s)	inside rSNPs	diseases
6	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:24)

SNP	Gene	Cis/trans	Tissue	Source
rs11236236	RP11-147I3.1	cis	Esophagus Muscularis	GTEx
rs11236236	XRRA1	cis	Stomach	GTEx
rs11236236	XRRA1	cis	Thyroid	GTEx
rs11236236	XRRA1	cis	Skin Sun Exposed Lower leg	GTEx
rs11236236	XRRA1	cis	cerebellum	SCAN
rs11236236	XRRA1	cis	parietal	SCAN
rs11236236	MRPL48	cis	cerebellum	SCAN
rs11236236	XRRA1	cis	lung	GTEx
rs11236236	XRRA1	cis	Esophagus Mucosa	GTEx
rs11236236	XRRA1	cis	lymphoblastoid	GTEx
rs11236236	XRRA1	cis	Artery Tibial	GTEx
rs11236236	XRRA1	cis	Artery Aorta	GTEx
rs11236236	NDUFC2	cis	parietal	SCAN
rs11236236	XRRA1	cis	Esophagus Muscularis	GTEx
rs11236236	XRRA1	cis	Adipose Subcutaneous	GTEx
rs11236236	XRRA1	Cis_1M	lymphoblastoid	RTeQTL
rs11236236	PAAF1	cis	parietal	SCAN
rs11236236	RNF169	cis	cerebellum	SCAN
rs11236236	XRRA1	cis	Nerve Tibial	GTEx
rs11236236	RP11-147I3.1	cis	Thyroid	GTEx
rs11236236	XRRA1	cis	lymphoblastoid	seeQTL
rs11236236	XRRA1	cis	Muscle Skeletal	GTEx
rs11236236	XRRA1	cis	Whole Blood	GTEx
rs11236236	XRRA1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74441200-74443000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
2	chr11:74441200-74443200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:74441400-74443000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr11:74441600-74443000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr11:74441600-74443000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr11:74441600-74443200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr11:74441800-74443000	Bivalent Enhancer	Liver	Liver
8	chr11:74441800-74443000	Bivalent Enhancer	Fetal Heart	heart
9	chr11:74441800-74443000	Enhancers	Pancreas	Pancrea
10	chr11:74442000-74443000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr11:74442000-74443000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:74442000-74443000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:74442000-74443000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:74442000-74443000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:74442000-74443000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
16	chr11:74442000-74443000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr11:74442000-74443000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
18	chr11:74442000-74443000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
19	chr11:74442000-74443000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:74442000-74443000	Active TSS	Brain Angular Gyrus	brain
21	chr11:74442000-74443000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
22	chr11:74442000-74443000	Bivalent Enhancer	Placenta	Placenta
23	chr11:74442000-74443000	Active TSS	Rectal Smooth Muscle	rectum
24	chr11:74442000-74443000	Enhancers	Spleen	Spleen
25	chr11:74442000-74443000	Bivalent Enhancer	HUVEC	blood vessel
26	chr11:74442000-74443000	Bivalent/Poised TSS	Osteobl	bone
27	chr11:74442000-74443200	Bivalent Enhancer	Fetal Brain Male	brain
28	chr11:74442000-74443400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
29	chr11:74442200-74443000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:74442200-74443000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr11:74442200-74443000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:74442200-74443000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:74442200-74443000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
34	chr11:74442200-74443000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
35	chr11:74442200-74443000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
36	chr11:74442200-74443000	Bivalent/Poised TSS	Right Ventricle	heart
37	chr11:74442200-74443200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
38	chr11:74442200-74443200	Bivalent/Poised TSS	HSMM	muscle
39	chr11:74442400-74443000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:74442400-74443000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:74442400-74443000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr11:74442400-74443000	Bivalent Enhancer	Stomach Mucosa	stomach
43	chr11:74442400-74443000	Bivalent/Poised TSS	NH-A	brain
44	chr11:74442600-74443000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:74442600-74443000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:74442600-74443000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:74442600-74443000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
48	chr11:74442600-74443000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
49	chr11:74442600-74443000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:74442600-74443000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain

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