Variant report

Variant	rs5997470
Chromosome Location	chr22:29784289-29784290
allele	C/T
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	chr22:29701804..29704290-chr22:29781998..29785634,5	MCF-7	breast:
4	chr22:29712026..29714411-chr22:29782149..29784555,3	K562	blood:
5	chr22:29708527..29710108-chr22:29782946..29784507,2	K562	blood:
6	chr22:29783150..29785946-chr22:29944649..29946343,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100296	Chromatin interaction
ENSG00000273216	Chromatin interaction
ENSG00000185340	Chromatin interaction
ENSG00000184117	Chromatin interaction
ENSG00000100285	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	chr22:29780800-29785200	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr22:29783000-29785000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr22:29783200-29784800	Active TSS	Fetal Intestine Large	intestine
4	chr22:29783200-29784800	Active TSS	GM12878-XiMat	blood
5	chr22:29783200-29785400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr22:29783400-29784800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr22:29783400-29784800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr22:29783400-29784800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr22:29783400-29784800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr22:29783400-29785000	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr22:29783400-29785200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr22:29783400-29785200	Active TSS	Right Atrium	heart
13	chr22:29783600-29784400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
14	chr22:29783600-29784400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr22:29783600-29784800	Active TSS	H1 Cell Line	embryonic stem cell
16	chr22:29783600-29784800	Active TSS	Brain Anterior Caudate	brain
17	chr22:29783600-29784800	Active TSS	Colonic Mucosa	Colon
18	chr22:29783600-29785000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr22:29783600-29785000	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr22:29783600-29785000	Active TSS	Brain Substantia Nigra	brain
21	chr22:29783600-29785000	Active TSS	Esophagus	oesophagus
22	chr22:29783600-29785000	Active TSS	Gastric	stomach
23	chr22:29783600-29785000	Active TSS	Right Ventricle	heart
24	chr22:29783600-29785000	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr22:29783600-29785000	Active TSS	Stomach Mucosa	stomach
26	chr22:29783600-29785000	Active TSS	A549	lung
27	chr22:29783600-29785200	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr22:29783600-29785200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr22:29783600-29785200	Active TSS	Psoas Muscle	Psoas
30	chr22:29783600-29785400	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr22:29783600-29785400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr22:29783600-29785400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr22:29783800-29784400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr22:29783800-29784400	Flanking Active TSS	Fetal Muscle Trunk	muscle
35	chr22:29783800-29784800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr22:29783800-29784800	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr22:29783800-29784800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr22:29783800-29784800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr22:29783800-29784800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr22:29783800-29784800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr22:29783800-29784800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr22:29783800-29784800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr22:29783800-29784800	Active TSS	Brain Hippocampus Middle	brain
44	chr22:29783800-29784800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr22:29783800-29784800	Active TSS	Fetal Intestine Small	intestine
46	chr22:29783800-29784800	Active TSS	Fetal Stomach	stomach
47	chr22:29783800-29784800	Active TSS	Lung	lung
48	chr22:29783800-29784800	Active TSS	Pancreas	Pancrea
49	chr22:29783800-29784800	Active TSS	Placenta Amnion	Placenta Amnion
50	chr22:29783800-29784800	Active TSS	Spleen	Spleen

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