Variant report

Variant	rs9625784
Chromosome Location	chr22:29789207-29789208
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	ZNF143	chr22:29788975-29789302	GM12878	blood:	n/a	n/a
2	IKZF1	chr22:29789137-29789575	GM12878	blood:	n/a	n/a
3	CTCF	chr22:29789060-29789210	HEEpiC	esophagus:	n/a	n/a
4	MAZ	chr22:29789041-29789561	HepG2	liver:	n/a	chr22:29789514-29789523
5	EP300	chr22:29789147-29789610	GM12878	blood:	n/a	chr22:29789382-29789391

No.	Distal block	Cell Line	Cell type
1	chr22:29781675..29783812-chr22:29788035..29790235,2	MCF-7	breast:
2	chr22:29787252..29790791-chr22:29920718..29924086,3	MCF-7	breast:
3	chr22:29784558..29786360-chr22:29786552..29791390,4	MCF-7	breast:

Variant related genes	Relation type
AP1B1	TF binding region
ENSG00000100280	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12166223	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12167481	1.00[EUR][1000 genomes]
rs12169052	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12170282	1.00[EUR][1000 genomes]
rs28425720	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs5742311	1.00[EUR][1000 genomes]
rs5752924	1.00[CEU][hapmap]
rs6519779	1.00[CEU][hapmap]
rs73399041	1.00[EUR][1000 genomes]
rs73399052	1.00[EUR][1000 genomes]
rs73399059	1.00[EUR][1000 genomes]
rs9620871	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9620872	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9620884	1.00[EUR][1000 genomes]
rs9625764	1.00[EUR][1000 genomes]
rs9625773	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9625785	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 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	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	nsv191528	chr22:29786603-29789764	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29785000-29791200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:29785200-29790800	Weak transcription	Brain Anterior Caudate	brain
3	chr22:29785200-29790800	Weak transcription	K562	blood
4	chr22:29785400-29789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr22:29785400-29789400	Weak transcription	Placenta	Placenta
6	chr22:29785400-29790600	Weak transcription	Colonic Mucosa	Colon
7	chr22:29785400-29790800	Weak transcription	Primary B cells from cord blood	blood
8	chr22:29785400-29790800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr22:29785400-29790800	Weak transcription	Brain Angular Gyrus	brain
10	chr22:29785400-29790800	Weak transcription	Brain Substantia Nigra	brain
11	chr22:29785400-29790800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr22:29785400-29790800	Weak transcription	Spleen	Spleen
13	chr22:29785400-29791000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr22:29785400-29791200	Weak transcription	Colon Smooth Muscle	Colon
15	chr22:29785400-29791200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr22:29785400-29792200	Weak transcription	Small Intestine	intestine
17	chr22:29785600-29790800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr22:29785800-29790800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr22:29785800-29791000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr22:29786000-29790800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr22:29786200-29790800	Weak transcription	Dnd41	blood
22	chr22:29787200-29790000	Enhancers	HepG2	liver
23	chr22:29787800-29791000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr22:29787800-29791000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr22:29788000-29790800	Weak transcription	Adipose Nuclei	Adipose
26	chr22:29788000-29790800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr22:29788600-29789400	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr22:29788600-29789600	Enhancers	Fetal Intestine Large	intestine
29	chr22:29788600-29789600	Enhancers	Fetal Intestine Small	intestine
30	chr22:29788600-29789600	Enhancers	Stomach Mucosa	stomach
31	chr22:29788600-29789800	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr22:29788800-29789400	Enhancers	Liver	Liver
33	chr22:29788800-29789600	Enhancers	Duodenum Mucosa	Duodenum
34	chr22:29788800-29789600	Enhancers	Fetal Thymus	thymus
35	chr22:29788800-29789600	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr22:29788800-29789800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr22:29788800-29790000	Enhancers	Primary hematopoietic stem cells	blood
38	chr22:29788800-29790200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr22:29788800-29790200	Enhancers	GM12878-XiMat	blood
40	chr22:29788800-29791000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr22:29789000-29789600	Enhancers	Fetal Heart	heart
42	chr22:29789000-29789600	Enhancers	Pancreas	Pancrea
43	chr22:29789000-29789600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr22:29789000-29789800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr22:29789000-29789800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr22:29789000-29789800	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr22:29789200-29789600	Enhancers	Primary B cells from peripheral blood	blood
48	chr22:29789200-29789600	Flanking Active TSS	A549	lung

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