Variant report

Variant	rs562347484
Chromosome Location	chr11:65402355-65402356
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65402145-65402396	K562	blood:	n/a	n/a
2	ELF1	chr11:65402033-65402418	K562	blood:	n/a	chr11:65402254-65402267
3	ELF1	chr11:65401964-65402508	GM12878	blood:	n/a	chr11:65402254-65402267
4	POLR2A	chr11:65402111-65402407	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:65401838-65402399	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65399412..65402464-chr11:65478309..65480936,3	MCF-7	breast:
2	chr11:65401684..65404221-chr11:65623185..65625956,3	K562	blood:
3	chr11:65400163..65404871-chr11:65428865..65432129,6	MCF-7	breast:
4	chr11:65401684..65407000-chr11:65623220..65627704,6	K562	blood:

Variant related genes	Relation type
SIPA1	TF binding region
MIR4690	TF binding region
ENSG00000172732	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172977	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking 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 miRNA target site	984 gene(s)	inside rSNPs	diseases
2	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS 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	999 gene(s)	inside rSNPs	diseases
3	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
4	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
5	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 gene(s)	inside rSNPs	diseases
6	nsv897721	chr11:65278461-65422853	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv897722	chr11:65278461-65436888	Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
8	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
9	nsv468599	chr11:65335705-65427346	ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
10	nsv555213	chr11:65335705-65427346	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
11	nsv897732	chr11:65335705-65427346	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
12	nsv468600	chr11:65335705-65431360	Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
13	nsv555214	chr11:65335705-65431360	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
14	nsv897733	chr11:65335705-65431360	Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription 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	92 gene(s)	inside rSNPs	diseases
15	nsv897734	chr11:65335705-65436888	Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
16	nsv897735	chr11:65335705-65481166	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
17	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
18	nsv897746	chr11:65349756-65427346	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
19	nsv897747	chr11:65353906-65481166	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
20	esv1831135	chr11:65387352-65420872	Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	43 gene(s)	inside rSNPs	diseases
21	nsv897748	chr11:65392695-65466911	Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
22	nsv897749	chr11:65401748-65420760	Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	39 gene(s)	inside rSNPs	diseases
23	nsv897750	chr11:65401748-65421476	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
24	nsv897751	chr11:65401748-65425167	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65384800-65404400	Weak transcription	Fetal Heart	heart
2	chr11:65384800-65404600	Strong transcription	H9 Cell Line	embryonic stem cell
3	chr11:65384800-65404600	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:65384800-65404600	Strong transcription	Thymus	Thymus
5	chr11:65384800-65404800	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:65384800-65404800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:65385000-65404200	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr11:65385000-65404200	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:65385000-65404200	Strong transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:65385000-65404400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:65385000-65404400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:65385000-65404400	Strong transcription	Fetal Stomach	stomach
13	chr11:65385000-65404600	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr11:65385000-65404600	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:65385000-65404800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:65385000-65405000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:65385000-65405000	Strong transcription	Brain Germinal Matrix	brain
18	chr11:65385000-65405000	Strong transcription	Fetal Brain Female	brain
19	chr11:65385000-65405000	Strong transcription	Fetal Intestine Small	intestine
20	chr11:65385200-65402400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:65385200-65403600	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr11:65385200-65403800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:65385200-65403800	Strong transcription	Placenta	Placenta
24	chr11:65385200-65404200	Strong transcription	Fetal Muscle Trunk	muscle
25	chr11:65385200-65404400	Strong transcription	NHLF	lung
26	chr11:65385200-65404600	Strong transcription	Adipose Nuclei	Adipose
27	chr11:65385200-65404600	Strong transcription	Brain Anterior Caudate	brain
28	chr11:65385200-65404600	Strong transcription	Fetal Intestine Large	intestine
29	chr11:65385200-65404600	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr11:65385200-65404600	Strong transcription	A549	lung
31	chr11:65385200-65404800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:65385200-65404800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:65385200-65404800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:65385400-65404200	Strong transcription	Fetal Muscle Leg	muscle
35	chr11:65385400-65404400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:65385400-65404600	Strong transcription	Duodenum Mucosa	Duodenum
37	chr11:65385400-65404600	Strong transcription	Fetal Thymus	thymus
38	chr11:65385600-65404600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:65385600-65404800	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr11:65386400-65403800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:65386400-65404400	Strong transcription	GM12878-XiMat	blood
42	chr11:65386800-65403600	Strong transcription	Dnd41	blood
43	chr11:65389600-65404400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:65390400-65404600	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr11:65393800-65403800	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr11:65393800-65404400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:65393800-65404400	Weak transcription	Right Atrium	heart
48	chr11:65393800-65404600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:65393800-65404800	Strong transcription	Lung	lung
50	chr11:65394000-65404400	Strong transcription	Monocytes-CD14+_RO01746	blood

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