Variant report

Variant	rs558772793
Chromosome Location	chr11:67134049-67134050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67119765..67126816-chr11:67129168..67134805,10	K562	blood:
2	chr11:67082881..67085755-chr11:67132076..67134677,2	K562	blood:
3	chr11:67133399..67135942-chr11:67204970..67207093,2	K562	blood:

Variant related genes	Relation type
ENSG00000175482	Chromatin interaction
ENSG00000213402	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription 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 target site	85 gene(s)	inside rSNPs	diseases
7	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS 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 target site	85 gene(s)	inside rSNPs	diseases
8	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
9	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
10	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
11	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
12	esv3361899	chr11:67133576-67138574	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67125000-67137600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:67125200-67138200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:67125200-67139200	Weak transcription	Small Intestine	intestine
4	chr11:67125600-67136600	Weak transcription	HUVEC	blood vessel
5	chr11:67126200-67134200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr11:67127000-67134200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:67130600-67134800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:67131200-67137400	Genic enhancers	Primary B cells from peripheral blood	blood
9	chr11:67131200-67139400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:67131400-67134400	Enhancers	Primary hematopoietic stem cells	blood
11	chr11:67131400-67134400	Genic enhancers	A549	lung
12	chr11:67131400-67138800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:67131400-67138800	Enhancers	Primary B cells from cord blood	blood
14	chr11:67132000-67134200	Genic enhancers	Fetal Stomach	stomach
15	chr11:67132000-67135600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:67132200-67134200	Genic enhancers	Placenta Amnion	Placenta Amnion
17	chr11:67132400-67134800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr11:67132400-67137800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr11:67132400-67139200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:67132600-67134800	Enhancers	Fetal Brain Female	brain
21	chr11:67132600-67136000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr11:67132600-67136000	Enhancers	Ovary	ovary
23	chr11:67132600-67136000	Enhancers	Right Atrium	heart
24	chr11:67132800-67134800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr11:67132800-67135200	Enhancers	Fetal Brain Male	brain
26	chr11:67132800-67135400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:67132800-67135600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:67132800-67138000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:67132800-67139600	Weak transcription	Aorta	Aorta
30	chr11:67133000-67134400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:67133000-67134800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:67133000-67135200	Enhancers	Brain Germinal Matrix	brain
33	chr11:67133000-67135400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:67133000-67135600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr11:67133000-67136000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:67133000-67136000	Enhancers	Fetal Muscle Trunk	muscle
37	chr11:67133000-67136200	Enhancers	Fetal Heart	heart
38	chr11:67133000-67137600	Enhancers	Primary T cells fromperipheralblood	blood
39	chr11:67133200-67134200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr11:67133200-67134200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:67133200-67135200	Enhancers	Spleen	Spleen
42	chr11:67133200-67136200	Enhancers	Fetal Muscle Leg	muscle
43	chr11:67133200-67137000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:67133200-67139200	Enhancers	Lung	lung
45	chr11:67133400-67134200	Enhancers	Fetal Kidney	kidney
46	chr11:67133400-67134200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr11:67133400-67134200	Genic enhancers	NHLF	lung
48	chr11:67133400-67134400	Bivalent Enhancer	Adipose Nuclei	Adipose
49	chr11:67133400-67134400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
50	chr11:67133400-67134400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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