Variant report

Variant	rs531121328
Chromosome Location	chr22:29781979-29781980
allele	G/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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29209443..29210342-chr22:29781715..29782736,4	MCF-7	breast:
2	chr22:29780907..29784157-chr22:29912302..29916422,4	MCF-7	breast:
3	chr22:29704896..29707829-chr22:29780262..29782390,2	MCF-7	breast:
4	chr22:29774091..29774727-chr22:29781651..29782814,5	MCF-7	breast:
5	chr22:29781890..29782717-chr22:29913055..29913918,8	MCF-7	breast:
6	chr22:29781310..29782787-chr22:29913055..29914130,15	MCF-7	breast:
7	chr22:29771898..29775582-chr22:29781742..29783845,4	MCF-7	breast:
8	chr22:29774109..29774727-chr22:29781778..29782854,8	MCF-7	breast:
9	chr22:29780492..29782846-chr22:29865528..29867159,2	MCF-7	breast:
10	chr22:29739232..29740930-chr22:29780922..29783404,2	MCF-7	breast:
11	chr22:29770782..29772689-chr22:29780811..29782872,2	K562	blood:
12	chr22:29781578..29782726-chr22:29877337..29878344,7	MCF-7	breast:
13	chr22:29781864..29782673-chr22:29877575..29878342,2	MCF-7	breast:
14	chr22:29781675..29783812-chr22:29788035..29790235,2	MCF-7	breast:
15	chr22:29781329..29782720-chr22:29913118..29914020,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185340	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29741000-29782800	Weak transcription	Hela-S3	cervix
2	chr22:29755000-29783800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:29755200-29782800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr22:29755400-29783600	Weak transcription	Fetal Kidney	kidney
5	chr22:29756000-29783600	Weak transcription	Right Ventricle	heart
6	chr22:29756000-29783800	Weak transcription	Ovary	ovary
7	chr22:29756400-29782600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr22:29765400-29782600	Weak transcription	Colon Smooth Muscle	Colon
9	chr22:29765400-29783600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr22:29765600-29783600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr22:29765600-29783600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:29765800-29782800	Weak transcription	NHDF-Ad	bronchial
13	chr22:29766200-29783600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr22:29767200-29783600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr22:29767400-29783400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr22:29767400-29783600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr22:29768000-29783600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr22:29768000-29783800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr22:29769200-29783600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:29770400-29782600	Strong transcription	Primary T cells from cord blood	blood
21	chr22:29772400-29783000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr22:29772600-29782400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr22:29772600-29783400	Weak transcription	HSMMtube	muscle
24	chr22:29772800-29782800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr22:29773600-29783600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr22:29773600-29783600	Weak transcription	HSMM	muscle
27	chr22:29774000-29783600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr22:29774200-29782000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr22:29774200-29783000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr22:29774200-29783600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr22:29774200-29784000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr22:29774600-29782200	Weak transcription	Psoas Muscle	Psoas
33	chr22:29776200-29782000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr22:29776400-29783600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr22:29776800-29782800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr22:29777000-29782200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr22:29777000-29782800	Weak transcription	Esophagus	oesophagus
38	chr22:29777000-29783400	Weak transcription	Right Atrium	heart
39	chr22:29777000-29783600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr22:29777200-29782200	Weak transcription	HMEC	breast
41	chr22:29777600-29782000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr22:29778000-29782600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr22:29778000-29783000	Enhancers	Liver	Liver
44	chr22:29778400-29783600	Enhancers	HepG2	liver
45	chr22:29779000-29783600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr22:29779000-29783800	Weak transcription	Aorta	Aorta
47	chr22:29779200-29782400	Weak transcription	A549	lung
48	chr22:29779200-29783000	Weak transcription	Fetal Lung	lung
49	chr22:29779200-29783400	Weak transcription	Fetal Heart	heart
50	chr22:29779200-29783600	Enhancers	Primary monocytes fromperipheralblood	blood

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