Variant report

Variant	rs562556971
Chromosome Location	chr22:29782858-29782859
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29782601..29785697-chr22:29975164..29978533,5	MCF-7	breast:
2	chr22:29780907..29784157-chr22:29912302..29916422,4	MCF-7	breast:
3	chr22:29701804..29704290-chr22:29781998..29785634,5	MCF-7	breast:
4	chr22:29771898..29775582-chr22:29781742..29783845,4	MCF-7	breast:
5	chr22:29712026..29714411-chr22:29782149..29784555,3	K562	blood:
6	chr22:29739232..29740930-chr22:29780922..29783404,2	MCF-7	breast:
7	chr22:29770782..29772689-chr22:29780811..29782872,2	K562	blood:
8	chr22:29781675..29783812-chr22:29788035..29790235,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184117	Chromatin interaction
ENSG00000273216	Chromatin interaction
ENSG00000185340	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer 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	46 gene(s)	inside rSNPs	diseases
2	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv914961	chr22:29755888-29817506	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv914962	chr22:29755888-29823768	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
6	esv2580719	chr22:29759273-29816494	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv3498689	chr22:29763576-29812598	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3498690	chr22:29763576-29812598	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv3382633	chr22:29764347-29814462	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic 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	8 gene(s)	inside rSNPs	diseases
10	nsv459868	chr22:29767925-29807855	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv459869	chr22:29767925-29807855	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv588882	chr22:29767925-29807855	Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
14	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
15	esv1802274	chr22:29781844-29790912	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
16	esv1816859	chr22:29782854-29789813	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29755000-29783800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:29755400-29783600	Weak transcription	Fetal Kidney	kidney
3	chr22:29756000-29783600	Weak transcription	Right Ventricle	heart
4	chr22:29756000-29783800	Weak transcription	Ovary	ovary
5	chr22:29765400-29783600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr22:29765600-29783600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr22:29765600-29783600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:29766200-29783600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr22:29767200-29783600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr22:29767400-29783400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr22:29767400-29783600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr22:29768000-29783600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr22:29768000-29783800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr22:29769200-29783600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr22:29772400-29783000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:29772600-29783400	Weak transcription	HSMMtube	muscle
17	chr22:29773600-29783600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr22:29773600-29783600	Weak transcription	HSMM	muscle
19	chr22:29774000-29783600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:29774200-29783000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr22:29774200-29783600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr22:29774200-29784000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr22:29776400-29783600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr22:29777000-29783400	Weak transcription	Right Atrium	heart
25	chr22:29777000-29783600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr22:29778000-29783000	Enhancers	Liver	Liver
27	chr22:29778400-29783600	Enhancers	HepG2	liver
28	chr22:29779000-29783600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr22:29779000-29783800	Weak transcription	Aorta	Aorta
30	chr22:29779200-29783000	Weak transcription	Fetal Lung	lung
31	chr22:29779200-29783400	Weak transcription	Fetal Heart	heart
32	chr22:29779200-29783600	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr22:29779200-29783800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr22:29779400-29783000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr22:29779400-29783000	Strong transcription	Fetal Stomach	stomach
36	chr22:29779600-29783000	Genic enhancers	Fetal Intestine Small	intestine
37	chr22:29780000-29783200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr22:29780000-29783800	Weak transcription	Lung	lung
39	chr22:29780200-29783600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr22:29780200-29783600	Enhancers	Stomach Mucosa	stomach
41	chr22:29780400-29783600	Enhancers	Pancreas	Pancrea
42	chr22:29780400-29783600	Weak transcription	Thymus	Thymus
43	chr22:29780600-29783000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr22:29780600-29783000	Weak transcription	NHLF	lung
45	chr22:29780800-29785200	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr22:29781000-29783000	Enhancers	Gastric	stomach
47	chr22:29781000-29783800	Enhancers	Fetal Brain Male	brain
48	chr22:29781000-29784200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr22:29781200-29783000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr22:29781200-29783600	Enhancers	Primary hematopoietic stem cells	blood

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