Variant report

Variant	rs550153300
Chromosome Location	chr11:67225898-67225899
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67225897-67225947	GM12878	blood:	n/a
2	chr11:67225897-67225947	HMEC	breast:	n/a
3	chr11:67225897-67225947	BJ	skin:	n/a
4	chr11:67225897-67225947	Hepatocyte	liver:	n/a
5	chr11:67225897-67225947	AG04450	lung:	fetal
6	chr11:67225897-67225947	H1-hESC	embryonic stem cell:	embryo
7	chr11:67225897-67225947	LNCaP	prostate:	n/a
8	chr11:67225897-67225947	PANC-1	pancreas:	n/a
9	chr11:67225897-67225947	AG09309	skin:	n/a
10	chr11:67225897-67225947	HRCEpiC	kidney:	n/a
11	chr11:67225897-67225947	HCF	heart:	n/a
12	chr11:67225897-67225947	GM06990	blood:	n/a
13	chr11:67225897-67225947	Caco-2	colon:	n/a
14	chr11:67225897-67225947	SKMC	muscle:	n/a
15	chr11:67225897-67225947	HCT-116	colon:	n/a
16	chr11:67225897-67225947	HL-60	blood:	n/a
17	chr11:67225897-67225947	AG04449	skin:	fetal
18	chr11:67225897-67225947	ovcar-3	ovarian:	n/a
19	chr11:67225897-67225947	SAEC	small airway:	n/a
20	chr11:67225897-67225947	K562	blood:	n/a
21	chr11:67225897-67225947	CMK	blood:	n/a
22	chr11:67225897-67225947	A549	lung:	n/a
23	chr11:67225897-67225947	SK-N-MC	brain:	n/a
24	chr11:67225897-67225947	GM12892	blood:	n/a
25	chr11:67225897-67225947	HAEpiC	amniotic membrane:	n/a
26	chr11:67225897-67225947	AG10803	skin:	n/a
27	chr11:67225897-67225947	ECC-1	luminal epithelium:	n/a
28	chr11:67225897-67225947	HRE	kidney:	n/a
29	chr11:67225897-67225947	T-47D	breast:	n/a
30	chr11:67225897-67225947	HIPEpiC	eye:	n/a
31	chr11:67225897-67225947	NB4	blood:	n/a
32	chr11:67225897-67225947	PFSK-1	brain:	n/a
33	chr11:67225897-67225947	AoSMC	blood vessel:	n/a
34	chr11:67225897-67225947	HPAEpiC	pulmonary alveolar:	n/a
35	chr11:67225897-67225947	SK-N-SH	brain:	n/a
36	chr11:67225897-67225947	GM19239	blood:	n/a
37	chr11:67225897-67225947	SK-N-SH_RA	brain:	n/a
38	chr11:67225897-67225947	MCF10A-Er-Src	breast:	n/a
39	chr11:67225897-67225947	Hela-S3	cervix:	n/a
40	chr11:67225897-67225947	HRPEpiC	eye:	n/a
41	chr11:67225897-67225947	AG09319	gingival:	n/a
42	chr11:67225897-67225947	HUVEC	blood vessel:	n/a
43	chr11:67225897-67225947	BE2_C	brain:	n/a
44	chr11:67225897-67225947	HEEpiC	esophagus:	n/a
45	chr11:67225897-67225947	HNPCEpiC	eye:	n/a
46	chr11:67225897-67225947	NT2-D1	testis:	n/a
47	chr11:67225897-67225947	NHDF-neo	bronchial:	n/a
48	chr11:67225897-67225947	HCM	heart:	n/a
49	chr11:67225897-67225947	HEK293	kidney:	embryo
50	chr11:67225897-67225947	RPTEC	kidney:	n/a

No data

Variant related genes	Relation type
ENSG00000269913	CpG island

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer 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 miRNA target site	206 gene(s)	inside rSNPs	diseases
3	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
5	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
6	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
7	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
8	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
9	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
10	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
11	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
12	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
13	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers 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	148 gene(s)	inside rSNPs	diseases
14	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
15	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
16	nsv897813	chr11:67175692-67283891	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription 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	132 gene(s)	inside rSNPs	diseases
17	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
18	nsv468604	chr11:67186000-67283891	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
19	nsv555256	chr11:67186000-67283891	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
20	nsv527056	chr11:67207426-67294308	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer 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	115 gene(s)	inside rSNPs	diseases
21	esv1813337	chr11:67217703-67235815	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
22	nsv983155	chr11:67220251-67251432	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
23	nsv528976	chr11:67224988-67227006	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67211800-67231200	Weak transcription	Right Atrium	heart
2	chr11:67211800-67232000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:67212400-67226800	Enhancers	Primary B cells from peripheral blood	blood
4	chr11:67215400-67227200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:67215800-67230600	Weak transcription	Fetal Intestine Small	intestine
6	chr11:67217200-67231400	Weak transcription	Thymus	Thymus
7	chr11:67218600-67227000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr11:67219000-67231400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:67219800-67226800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr11:67220400-67231400	Weak transcription	Gastric	stomach
11	chr11:67220400-67231400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:67220400-67231400	Weak transcription	Right Ventricle	heart
13	chr11:67221400-67230800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:67222000-67226000	Weak transcription	Spleen	Spleen
15	chr11:67222400-67227200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:67223000-67227000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:67223600-67231400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:67224200-67226800	Enhancers	Primary B cells from cord blood	blood
19	chr11:67224800-67226200	Enhancers	Primary T cells fromperipheralblood	blood
20	chr11:67225800-67227200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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