Variant report

Variant	rs9625903
Chromosome Location	chr22:30413702-30413703
allele	A/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	EP300	chr22:30412579-30413883	SK-N-SH	brain:	n/a	chr22:30413573-30413582
2	GATA3	chr22:30412584-30413889	SK-N-SH	brain:	n/a	chr22:30413400-30413407 chr22:30413571-30413580
3	TCF12	chr22:30412577-30414025	SK-N-SH	brain:	n/a	n/a
4	JUND	chr22:30413190-30413839	SK-N-SH	brain:	n/a	chr22:30413573-30413580 chr22:30413572-30413582 chr22:30413572-30413582 chr22:30413573-30413582
5	POLR2A	chr22:30413689-30413705	K562	blood:	n/a	n/a
6	PBX3	chr22:30412614-30413965	SK-N-SH	brain:	n/a	n/a
7	EP300	chr22:30412912-30413752	SK-N-SH_RA	brain:	n/a	chr22:30413573-30413582
8	PBX3	chr22:30412632-30413912	SK-N-SH	brain:	n/a	n/a
9	FOSL2	chr22:30413344-30413852	SK-N-SH	brain:	n/a	chr22:30413573-30413580 chr22:30413572-30413582 chr22:30413572-30413582 chr22:30413573-30413582
10	NFIC	chr22:30412600-30413950	SK-N-SH	brain:	n/a	n/a
11	TCF12	chr22:30412592-30413971	SK-N-SH	brain:	n/a	n/a
12	JUND	chr22:30412839-30413907	SK-N-SH	brain:	n/a	chr22:30413573-30413580 chr22:30413572-30413582 chr22:30413572-30413582 chr22:30413573-30413582
13	GATA3	chr22:30412565-30413985	SK-N-SH	brain:	n/a	chr22:30413400-30413407 chr22:30413571-30413580
14	EP300	chr22:30412820-30413769	SK-N-SH_RA	brain:	n/a	chr22:30413573-30413582
15	NFIC	chr22:30413281-30413831	SK-N-SH	brain:	n/a	n/a
16	FOSL2	chr22:30412750-30413897	SK-N-SH	brain:	n/a	chr22:30413573-30413580 chr22:30413572-30413582 chr22:30413572-30413582 chr22:30413573-30413582
17	JUND	chr22:30412544-30414050	SK-N-SH	brain:	n/a	chr22:30413573-30413580 chr22:30413572-30413582 chr22:30413572-30413582 chr22:30413573-30413582
18	FOS	chr22:30413408-30413763	HUVEC	blood vessel:	n/a	chr22:30413573-30413580 chr22:30413572-30413582 chr22:30413571-30413582 chr22:30413572-30413582 chr22:30413573-30413582
19	RXRA	chr22:30413042-30413801	SK-N-SH	brain:	n/a	chr22:30413235-30413254 chr22:30413573-30413582
20	POLR2A	chr22:30413124-30413806	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
MTMR3	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11090582	1.00[EUR][1000 genomes]
rs12166580	1.00[EUR][1000 genomes]
rs12166648	1.00[EUR][1000 genomes]
rs16988062	1.00[EUR][1000 genomes]
rs16988115	0.83[AMR][1000 genomes]
rs16988122	0.83[AMR][1000 genomes]
rs16988151	0.91[YRI][hapmap];0.83[AMR][1000 genomes]
rs2285645	0.91[YRI][hapmap];0.90[AFR][1000 genomes]
rs28647168	0.83[AMR][1000 genomes]
rs41479445	1.00[EUR][1000 genomes]
rs56733052	0.83[AMR][1000 genomes]
rs57258477	0.83[AMR][1000 genomes]
rs57724305	0.83[AMR][1000 genomes]
rs58255360	0.83[AMR][1000 genomes]
rs58538392	1.00[EUR][1000 genomes]
rs58643523	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59542747	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59580785	0.83[AMR][1000 genomes]
rs5997540	0.83[AMR][1000 genomes]
rs5997565	0.83[AMR][1000 genomes]
rs6006297	0.83[AMR][1000 genomes]
rs6006299	0.83[AMR][1000 genomes]
rs6006301	0.83[AMR][1000 genomes]
rs6006309	0.83[AMR][1000 genomes]
rs6006317	0.83[AMR][1000 genomes]
rs6006318	0.83[AMR][1000 genomes]
rs6006331	0.83[AMR][1000 genomes]
rs60245742	0.83[AMR][1000 genomes]
rs60964812	0.83[AMR][1000 genomes]
rs61043203	0.83[AMR][1000 genomes]
rs61191536	0.83[AMR][1000 genomes]
rs61540772	0.83[AMR][1000 genomes]
rs7286724	1.00[EUR][1000 genomes]
rs7290848	1.00[EUR][1000 genomes]
rs73394816	1.00[EUR][1000 genomes]
rs73394842	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73394851	0.83[AMR][1000 genomes]
rs73394860	0.83[AMR][1000 genomes]
rs73394861	0.83[AMR][1000 genomes]
rs73394863	0.83[AMR][1000 genomes]
rs73394876	0.83[AMR][1000 genomes]
rs73396842	0.83[AMR][1000 genomes]
rs73396845	0.83[AMR][1000 genomes]
rs73398604	0.83[AMR][1000 genomes]
rs73398637	0.83[AMR][1000 genomes]
rs73398640	0.83[AMR][1000 genomes]
rs73398663	0.83[AMR][1000 genomes]
rs73400621	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73400633	0.83[AMR][1000 genomes]
rs73400648	0.83[AMR][1000 genomes]
rs73400675	0.83[AMR][1000 genomes]
rs73400689	0.83[AMR][1000 genomes]
rs73402619	0.83[AMR][1000 genomes]
rs73402627	0.83[AMR][1000 genomes]
rs73402640	0.83[AMR][1000 genomes]
rs73402644	0.83[AMR][1000 genomes]
rs73402647	0.83[AMR][1000 genomes]
rs73402653	0.83[AMR][1000 genomes]
rs73402667	0.83[AMR][1000 genomes]
rs9620930	1.00[EUR][1000 genomes]
rs9620939	0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625869	1.00[EUR][1000 genomes]
rs9625890	1.00[EUR][1000 genomes]
rs9625907	1.00[EUR][1000 genomes]
rs9625929	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 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	chr22:30363400-30427800	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr22:30367000-30426600	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr22:30390200-30434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:30391400-30433000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr22:30391600-30417800	Weak transcription	Right Atrium	heart
6	chr22:30392600-30425000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr22:30393800-30424800	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr22:30394600-30424600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr22:30394800-30425200	Strong transcription	Fetal Intestine Large	intestine
10	chr22:30394800-30426200	Strong transcription	Placenta	Placenta
11	chr22:30396800-30426200	Strong transcription	Primary B cells from cord blood	blood
12	chr22:30397600-30419800	Strong transcription	Dnd41	blood
13	chr22:30397800-30423800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr22:30397800-30425400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr22:30398000-30424400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr22:30398000-30426200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr22:30398400-30425000	Strong transcription	Primary hematopoietic stem cells	blood
18	chr22:30398600-30425200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr22:30399600-30415400	Weak transcription	A549	lung
20	chr22:30399800-30422400	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr22:30401200-30420000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr22:30401200-30423200	Strong transcription	Adipose Nuclei	Adipose
23	chr22:30401600-30425200	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr22:30402000-30422600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr22:30402000-30422600	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr22:30402200-30425200	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr22:30402400-30420800	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr22:30402400-30424600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr22:30402600-30423600	Strong transcription	Liver	Liver
30	chr22:30402600-30426200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr22:30402800-30424200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr22:30402800-30425800	Strong transcription	Fetal Muscle Leg	muscle
33	chr22:30403000-30421000	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr22:30403000-30424400	Strong transcription	Fetal Brain Female	brain
35	chr22:30403000-30425200	Strong transcription	Stomach Smooth Muscle	stomach
36	chr22:30404000-30423400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr22:30404400-30420800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr22:30404400-30426400	Strong transcription	Primary T cells from cord blood	blood
39	chr22:30404800-30426000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr22:30405000-30415400	Weak transcription	Hela-S3	cervix
41	chr22:30405000-30424200	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr22:30405200-30424600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr22:30405200-30424800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr22:30405800-30424800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr22:30406000-30426600	Strong transcription	Thymus	Thymus
46	chr22:30406200-30425200	Strong transcription	Fetal Thymus	thymus
47	chr22:30407800-30425200	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr22:30408000-30414400	Strong transcription	Fetal Lung	lung
49	chr22:30408000-30425800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr22:30408200-30418400	Strong transcription	Gastric	stomach

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