Variant report

Variant	rs527758223
Chromosome Location	chr22:29785022-29785023
allele	C/T
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	GABPA	chr22:29783610-29785128	MCF-7	breast:	n/a	n/a
2	REST	chr22:29783821-29785192	H1-neurons	neurons:	n/a	chr22:29784387-29784400
3	HCFC1	chr22:29783809-29785033	Hela-S3	cervix:	n/a	n/a
4	STAT5A	chr22:29784204-29785026	GM12878	blood:	n/a	n/a
5	POLR2A	chr22:29783993-29785041	GM12892	blood:	n/a	n/a
6	MTA3	chr22:29783858-29785052	GM12878	blood:	n/a	n/a
7	MXI1	chr22:29783474-29785209	SK-N-SH	brain:	n/a	n/a
8	MAZ	chr22:29784365-29785042	GM12878	blood:	n/a	n/a
9	HDAC2	chr22:29784229-29785027	MCF-7	breast:	n/a	n/a
10	SIN3AK20	chr22:29784015-29785106	MCF-7	breast:	n/a	n/a
11	POLR2A	chr22:29784126-29785037	SK-N-MC	brain:	n/a	n/a
12	SPI1	chr22:29783839-29785126	GM12878	blood:	n/a	chr22:29784262-29784275 chr22:29784652-29784665
13	POLR2A	chr22:29784087-29785061	GM12892	blood:	n/a	n/a
14	MAZ	chr22:29783869-29785159	IMR90	lung:	n/a	n/a
15	POLR2A	chr22:29784135-29785023	GM12892	blood:	n/a	n/a
16	PML	chr22:29783791-29785113	GM12878	blood:	n/a	n/a
17	POLR2A	chr22:29784013-29785037	GM12878	blood:	n/a	n/a

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	chr22:29783150..29785946-chr22:29944649..29946343,2	MCF-7	breast:
5	chr22:29784630..29786169-chr22:29786224..29787893,2	K562	blood:

Variant related genes	Relation type
AP1B1	TF binding region
ENSG00000100296	Chromatin interaction
ENSG00000184117	Chromatin interaction
ENSG00000100285	Chromatin interaction
ENSG00000185340	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:113 , 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	chr22:29783200-29785400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr22:29783400-29785200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:29783400-29785200	Active TSS	Right Atrium	heart
5	chr22:29783600-29785200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr22:29783600-29785200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr22:29783600-29785200	Active TSS	Psoas Muscle	Psoas
8	chr22:29783600-29785400	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr22:29783600-29785400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr22:29783600-29785400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr22:29783800-29785200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr22:29783800-29785200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr22:29783800-29785200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr22:29783800-29785200	Active TSS	Aorta	Aorta
15	chr22:29783800-29785200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr22:29783800-29785200	Active TSS	Ovary	ovary
17	chr22:29783800-29785200	Active TSS	NHDF-Ad	bronchial
18	chr22:29783800-29785400	Active TSS	Hela-S3	cervix
19	chr22:29784000-29785200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr22:29784000-29785200	Active TSS	Fetal Kidney	kidney
21	chr22:29784000-29785400	Active TSS	Brain Cingulate Gyrus	brain
22	chr22:29784600-29785200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr22:29784600-29785400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr22:29784600-29785400	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr22:29784600-29785400	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr22:29784800-29785200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr22:29784800-29785200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr22:29784800-29785200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr22:29784800-29785200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr22:29784800-29785200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr22:29784800-29785200	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr22:29784800-29785200	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr22:29784800-29785200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr22:29784800-29785200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr22:29784800-29785200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr22:29784800-29785200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr22:29784800-29785200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr22:29784800-29785200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr22:29784800-29785200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr22:29784800-29785200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr22:29784800-29785200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr22:29784800-29785200	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr22:29784800-29785200	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr22:29784800-29785200	Flanking Active TSS	Colonic Mucosa	Colon
45	chr22:29784800-29785200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr22:29784800-29785200	Flanking Active TSS	Fetal Brain Female	brain
47	chr22:29784800-29785200	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr22:29784800-29785200	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr22:29784800-29785200	Flanking Active TSS	Fetal Lung	lung
50	chr22:29784800-29785200	Flanking Active TSS	Fetal Muscle Trunk	muscle

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