Variant report

Variant	rs11227610
Chromosome Location	chr11:66629029-66629030
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66628717-66629031	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr11:66628701-66629055	GM12892	blood:	n/a	n/a
3	POLR2A	chr11:66626400-66629045	K562	blood:	n/a	n/a
4	POLR2A	chr11:66624704-66629085	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr11:66627963-66629062	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:66623305-66630473	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:66628777-66629044	A549	lung:	n/a	n/a
8	POLR2A	chr11:66626135-66629497	K562	blood:	n/a	n/a
9	POLR2A	chr11:66628803-66629054	A549	lung:	n/a	n/a
10	POLR2A	chr11:66627878-66629756	A549	lung:	n/a	n/a
11	POLR2A	chr11:66628815-66629061	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:66623068-66630428	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:66623077-66631490	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr11:66623894-66630730	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66629022-66629072	ovcar-3	ovarian:	n/a
2	chr11:66629022-66629072	HNPCEpiC	eye:	n/a
3	chr11:66629022-66629072	GM19239	blood:	n/a
4	chr11:66629022-66629072	IMR90	lung:	fetal
5	chr11:66629022-66629072	U87	brain:	n/a
6	chr11:66629022-66629072	Jurkat	blood:	n/a
7	chr11:66629022-66629072	ProgFib	skin:	n/a
8	chr11:66629022-66629072	SAEC	small airway:	n/a
9	chr11:66629022-66629072	HepG2	liver:	n/a
10	chr11:66629022-66629072	H1-hESC	embryonic stem cell:	embryo
11	chr11:66629022-66629072	NB4	blood:	n/a
12	chr11:66629022-66629072	AG10803	skin:	n/a
13	chr11:66629022-66629072	Caco-2	colon:	n/a
14	chr11:66629022-66629072	BJ	skin:	n/a
15	chr11:66629022-66629072	GM06990	blood:	n/a
16	chr11:66629022-66629072	PFSK-1	brain:	n/a
17	chr11:66629022-66629072	MCF10A-Er-Src	breast:	n/a
18	chr11:66629022-66629072	HRPEpiC	eye:	n/a
19	chr11:66629022-66629072	HIPEpiC	eye:	n/a
20	chr11:66629022-66629072	AG04449	skin:	fetal
21	chr11:66629022-66629072	PrEC	prostate:	n/a
22	chr11:66629022-66629072	HAEpiC	amniotic membrane:	n/a
23	chr11:66629022-66629072	HEK293	kidney:	embryo
24	chr11:66629022-66629072	PANC-1	pancreas:	n/a
25	chr11:66629022-66629072	HPAEpiC	pulmonary alveolar:	n/a
26	chr11:66629022-66629072	BE2_C	brain:	n/a
27	chr11:66629022-66629072	K562	blood:	n/a
28	chr11:66629022-66629072	NHBE	bronchial:	n/a
29	chr11:66629022-66629072	GM12891	blood:	n/a
30	chr11:66629022-66629072	HMEC	breast:	n/a
31	chr11:66629022-66629072	NH-A	brain:	n/a
32	chr11:66629022-66629072	T-47D	breast:	n/a
33	chr11:66629022-66629072	GM12878	blood:	n/a
34	chr11:66629022-66629072	NHDF-neo	bronchial:	n/a
35	chr11:66629022-66629072	ECC-1	luminal epithelium:	n/a
36	chr11:66629022-66629072	HEEpiC	esophagus:	n/a
37	chr11:66629022-66629072	SKMC	muscle:	n/a
38	chr11:66629022-66629072	NT2-D1	testis:	n/a
39	chr11:66629022-66629072	AG09309	skin:	n/a
40	chr11:66629022-66629072	AG04450	lung:	fetal
41	chr11:66629022-66629072	GM12892	blood:	n/a
42	chr11:66629022-66629072	Hela-S3	cervix:	n/a
43	chr11:66629022-66629072	AG09319	gingival:	n/a
44	chr11:66629022-66629072	HUVEC	blood vessel:	n/a
45	chr11:66629022-66629072	A549	lung:	n/a
46	chr11:66629022-66629072	Hepatocyte	liver:	n/a
47	chr11:66629022-66629072	HRE	kidney:	n/a
48	chr11:66629022-66629072	SK-N-MC	brain:	n/a
49	chr11:66629022-66629072	LNCaP	prostate:	n/a
50	chr11:66629022-66629072	HCM	heart:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66628190..66631041-chr11:66791870..66794073,2	MCF-7	breast:
2	chr11:65624214..65625937-chr11:66627992..66630258,2	K562	blood:

No data

Variant related genes	Relation type
PC	TF binding region
PC	CpG island
ENSG00000172757	Chromatin interaction
ENSG00000172732	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10160758	0.86[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10750790	0.87[CEU][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10791889	0.87[CEU][hapmap]
rs10791892	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10896135	0.92[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10896139	0.93[CEU][hapmap];0.96[EUR][1000 genomes]
rs11600959	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2077432	0.87[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2167457	0.93[CEU][hapmap];1.00[CHB][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2187041	0.81[CEU][hapmap];0.82[YRI][hapmap];0.87[EUR][1000 genomes]
rs2380760	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3741194	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4008953	0.90[EUR][1000 genomes]
rs4576826	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4930184	0.85[EUR][1000 genomes]
rs4930390	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6591222	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs7103627	0.87[CEU][hapmap];0.93[EUR][1000 genomes]
rs7119426	0.93[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7120256	0.93[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs714766	0.87[EUR][1000 genomes]
rs7570	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs7930203	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7948839	0.93[CEU][hapmap];0.93[EUR][1000 genomes]
rs9971487	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv468602	chr11:66468469-66634397	Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv555225	chr11:66468469-66634397	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv508638	chr11:66541653-66643634	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer 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	53 gene(s)	inside rSNPs	diseases
5	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
7	nsv897795	chr11:66608521-66637926	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11227610	ZDHHC24	cis	Liver	GTEx
rs11227610	FIBP	cis	multi-tissue	Pritchard
rs11227610	SUMF2	cis	Liver	GTEx
rs11227610	LRFN4	cis	multi-tissue	Pritchard
rs11227610	SUMF2	trans	multi-tissue	Pritchard
rs11227610	ZDHHC24	cis	multi-tissue	Pritchard
rs11227610	HSS00286255	trans	multi-tissue	Pritchard

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66624200-66645000	Weak transcription	Fetal Kidney	kidney
2	chr11:66624400-66630800	Weak transcription	NHEK	skin
3	chr11:66624400-66636000	Weak transcription	Primary T cells from cord blood	blood
4	chr11:66624400-66637400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr11:66624400-66640200	Weak transcription	Colon Smooth Muscle	Colon
6	chr11:66624800-66637400	Weak transcription	Aorta	Aorta
7	chr11:66625000-66631200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:66625000-66636200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr11:66625000-66648800	Weak transcription	Right Atrium	heart
10	chr11:66625200-66631200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:66625400-66629400	Weak transcription	Brain Angular Gyrus	brain
12	chr11:66625400-66629600	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:66625400-66630800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr11:66625400-66631200	Weak transcription	Brain Anterior Caudate	brain
15	chr11:66625400-66631600	Weak transcription	HSMMtube	muscle
16	chr11:66625400-66632000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr11:66625400-66632200	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr11:66625400-66632800	Weak transcription	HepG2	liver
19	chr11:66625400-66634600	Strong transcription	Fetal Stomach	stomach
20	chr11:66625400-66636000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr11:66625400-66636000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:66625400-66642200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:66625400-66642200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:66625400-66645400	Weak transcription	Fetal Lung	lung
25	chr11:66625400-66645800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:66625400-66648000	Weak transcription	Left Ventricle	heart
27	chr11:66625400-66650600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:66625600-66630200	Strong transcription	NHLF	lung
29	chr11:66625600-66631800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:66625600-66636000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr11:66625600-66636200	Strong transcription	Fetal Intestine Small	intestine
32	chr11:66625800-66630000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:66625800-66630200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:66625800-66630200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:66625800-66630400	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:66625800-66636200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:66625800-66636400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:66625800-66650800	Weak transcription	Osteobl	bone
39	chr11:66626000-66633600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:66626200-66632000	Weak transcription	Fetal Heart	heart
41	chr11:66626200-66634200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:66626400-66634800	Strong transcription	Liver	Liver
43	chr11:66626600-66629800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:66626800-66634200	Strong transcription	Brain Germinal Matrix	brain
45	chr11:66627000-66629600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:66627000-66629800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr11:66627000-66630200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:66627000-66636400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr11:66627000-66643000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:66627200-66631000	Strong transcription	Muscle Satellite Cultured Cells	--

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