Variant report

Variant	rs41166
Chromosome Location	chr22:30413671-30413672
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	PBX3	chr22:30412614-30413965	SK-N-SH	brain:	n/a	n/a
6	EP300	chr22:30412912-30413752	SK-N-SH_RA	brain:	n/a	chr22:30413573-30413582
7	SIN3AK20	chr22:30413259-30413674	SK-N-SH	brain:	n/a	n/a
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: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11090598	0.82[EUR][1000 genomes]
rs12168499	0.82[EUR][1000 genomes]
rs12171061	0.88[EUR][1000 genomes]
rs12171250	0.81[EUR][1000 genomes]
rs17648725	0.82[EUR][1000 genomes]
rs1807509	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs193473	0.91[EUR][1000 genomes]
rs193481	0.90[EUR][1000 genomes]
rs2017677	0.88[EUR][1000 genomes]
rs2051764	0.88[EUR][1000 genomes]
rs2412960	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2412963	0.86[EUR][1000 genomes]
rs28257	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36580	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs36590	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs36591	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs36594	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36596	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36598	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36600	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36601	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36604	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36605	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36606	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs36607	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3788423	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs39712	0.83[AMR][1000 genomes]
rs41162	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41164	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41175	0.93[EUR][1000 genomes]
rs41179	0.91[EUR][1000 genomes]
rs4239932	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4239933	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4337577	0.82[EUR][1000 genomes]
rs4823063	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4823070	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs5752986	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5752988	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5752993	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5763630	0.83[EUR][1000 genomes]
rs5763634	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5763644	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5763674	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5763675	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5763680	0.88[EUR][1000 genomes]
rs5763689	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs715523	0.86[EUR][1000 genomes]
rs718772	0.82[EUR][1000 genomes]
rs737904	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs737909	0.88[EUR][1000 genomes]
rs737912	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7510705	0.82[EUR][1000 genomes]
rs8135823	0.82[EUR][1000 genomes]
rs8136147	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8141404	0.85[EUR][1000 genomes]
rs9620943	0.85[EUR][1000 genomes]
rs9625873	0.80[EUR][1000 genomes]
rs9625874	0.80[EUR][1000 genomes]
rs9625919	0.82[EUR][1000 genomes]
rs9625926	0.82[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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