Variant report

Variant	rs695416
Chromosome Location	chr22:29783978-29783979
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29782601..29785697-chr22:29975164..29978533,5	MCF-7	breast:
2	chr22:29783197..29785326-chr22:29874558..29877420,2	MCF-7	breast:
3	chr22:29780907..29784157-chr22:29912302..29916422,4	MCF-7	breast:
4	chr22:29701804..29704290-chr22:29781998..29785634,5	MCF-7	breast:
5	chr22:29712026..29714411-chr22:29782149..29784555,3	K562	blood:
6	chr22:29708527..29710108-chr22:29782946..29784507,2	K562	blood:
7	chr22:29783150..29785946-chr22:29944649..29946343,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273216	Chromatin interaction
ENSG00000100296	Chromatin interaction
ENSG00000100285	Chromatin interaction
ENSG00000185340	Chromatin interaction
ENSG00000184117	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:33 , 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
17	nsv821257	chr22:29783172-29794087	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
18	esv16905	chr22:29783258-29791250	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
19	nsv829156	chr22:29783405-29788871	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
20	nsv829157	chr22:29783405-29789515	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
21	nsv829158	chr22:29783405-29789813	Enhancers Flanking Active TSS Active TSS Weak 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
22	nsv829159	chr22:29783405-29790919	Weak transcription Enhancers Active TSS Flanking Active TSS 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
23	nsv829160	chr22:29783405-29791037	Enhancers Flanking Active TSS Weak transcription Active TSS 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
24	esv10194	chr22:29783647-29794087	Active TSS Weak transcription Flanking Active TSS Enhancers 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
25	esv1814311	chr22:29783788-29788871	Flanking Active TSS Active TSS Weak transcription Enhancers 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
26	esv1848443	chr22:29783788-29788871	Flanking Active TSS Enhancers Active TSS Weak 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
27	esv1792064	chr22:29783788-29789453	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
28	esv1809814	chr22:29783788-29789813	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
29	esv1816350	chr22:29783788-29789813	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
30	esv1850229	chr22:29783788-29789813	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
31	esv1832276	chr22:29783788-29791101	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
32	esv1795963	chr22:29783788-29791490	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
33	esv1846367	chr22:29783788-29791490	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	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	chr22:29774200-29784000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr22:29780800-29785200	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr22:29781000-29784200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr22:29782200-29784000	Flanking Active TSS	Primary B cells from peripheral blood	blood
5	chr22:29782800-29784000	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr22:29782800-29784200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr22:29783000-29784200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr22:29783000-29785000	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr22:29783200-29784200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr22:29783200-29784800	Active TSS	Fetal Intestine Large	intestine
11	chr22:29783200-29784800	Active TSS	GM12878-XiMat	blood
12	chr22:29783200-29785400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr22:29783400-29784000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr22:29783400-29784000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr22:29783400-29784000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr22:29783400-29784000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr22:29783400-29784000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr22:29783400-29784200	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr22:29783400-29784200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr22:29783400-29784200	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr22:29783400-29784200	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr22:29783400-29784200	Flanking Active TSS	Dnd41	blood
23	chr22:29783400-29784800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr22:29783400-29784800	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr22:29783400-29784800	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr22:29783400-29784800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr22:29783400-29785000	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr22:29783400-29785200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr22:29783400-29785200	Active TSS	Right Atrium	heart
30	chr22:29783600-29784000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:29783600-29784000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr22:29783600-29784000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr22:29783600-29784000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr22:29783600-29784000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr22:29783600-29784000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr22:29783600-29784000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr22:29783600-29784000	Flanking Active TSS	Liver	Liver
38	chr22:29783600-29784000	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr22:29783600-29784000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr22:29783600-29784000	Flanking Active TSS	Fetal Brain Female	brain
41	chr22:29783600-29784000	Flanking Active TSS	Fetal Heart	heart
42	chr22:29783600-29784000	Flanking Active TSS	Fetal Kidney	kidney
43	chr22:29783600-29784000	Flanking Active TSS	Fetal Lung	lung
44	chr22:29783600-29784000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr22:29783600-29784000	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr22:29783600-29784000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr22:29783600-29784000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr22:29783600-29784000	Flanking Active TSS	Thymus	Thymus
49	chr22:29783600-29784000	Flanking Active TSS	HSMM	muscle
50	chr22:29783600-29784000	Flanking Active TSS	HSMMtube	muscle

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