Variant report

Variant	rs557477952
Chromosome Location	chr11:66713283-66713284
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66712201..66714524-chr11:66716191..66718681,3	K562	blood:
2	chr11:66712970..66715747-chr11:66721336..66723431,2	K562	blood:
3	chr11:66712628..66714524-chr11:66717181..66719524,2	K562	blood:

Variant related genes	Relation type
ENSG00000173599	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv832194	chr11:66634462-66805980	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
5	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
6	nsv555228	chr11:66706842-66714426	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv819751	chr11:66709552-66715025	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3454597	chr11:66709576-66715174	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3485499	chr11:66710276-66714474	Genic enhancers Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3485500	chr11:66710701-66714449	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3485501	chr11:66710701-66714449	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv2457482	chr11:66710780-66713909	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3454620	chr11:66710901-66714549	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3454586	chr11:66711156-66713724	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3454608	chr11:66711427-66713376	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3454631	chr11:66711482-66713321	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv1805427	chr11:66711949-66713386	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv1809826	chr11:66711949-66713386	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv1818461	chr11:66711949-66713386	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv1820787	chr11:66711949-66713386	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv1831273	chr11:66711949-66713386	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv1831790	chr11:66711949-66713386	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	esv1847933	chr11:66711949-66713386	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	esv1848984	chr11:66711949-66713386	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	esv995385	chr11:66711949-66713416	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	nsv821590	chr11:66711949-66713416	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	nsv825957	chr11:66711949-66713416	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	esv1846713	chr11:66712229-66728044	Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66689200-66719400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr11:66694400-66718000	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:66696800-66717600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:66696800-66717600	Weak transcription	NHDF-Ad	bronchial
5	chr11:66701200-66724200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:66701600-66717600	Weak transcription	Brain Anterior Caudate	brain
7	chr11:66701800-66717600	Weak transcription	HSMMtube	muscle
8	chr11:66701800-66719600	Weak transcription	Brain Substantia Nigra	brain
9	chr11:66702600-66717600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:66702600-66717600	Weak transcription	Gastric	stomach
11	chr11:66702800-66717600	Weak transcription	NHEK	skin
12	chr11:66702800-66718200	Weak transcription	Fetal Brain Female	brain
13	chr11:66702800-66723600	Weak transcription	Brain Angular Gyrus	brain
14	chr11:66703000-66717400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:66703000-66717800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:66703200-66717400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:66703200-66718400	Weak transcription	Ovary	ovary
18	chr11:66703400-66714200	Weak transcription	Adipose Nuclei	Adipose
19	chr11:66703400-66717400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:66703800-66714000	Weak transcription	Osteobl	bone
21	chr11:66704200-66717400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:66704200-66717600	Weak transcription	NHLF	lung
23	chr11:66704400-66717400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr11:66704400-66717600	Weak transcription	HepG2	liver
25	chr11:66705000-66717400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:66705000-66717600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:66705000-66717600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:66705200-66713600	Weak transcription	A549	lung
29	chr11:66705200-66717400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:66705600-66717200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:66706600-66719400	Weak transcription	Fetal Heart	heart
32	chr11:66707000-66717200	Weak transcription	K562	blood
33	chr11:66707400-66717800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:66707400-66717800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr11:66707800-66715400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:66708000-66724200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr11:66708200-66724200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:66708600-66717400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:66708600-66724200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr11:66708600-66724200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr11:66708800-66714200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:66708800-66718400	Weak transcription	Stomach Mucosa	stomach
43	chr11:66709000-66717800	Weak transcription	Primary T cells from cord blood	blood
44	chr11:66709200-66717600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:66709200-66719600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:66709400-66718400	Weak transcription	Fetal Intestine Small	intestine
47	chr11:66709400-66724400	Weak transcription	Brain Germinal Matrix	brain
48	chr11:66710200-66714200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:66710200-66719400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:66710800-66719400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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