Variant report

Variant	rs17647135
Chromosome Location	chr22:30412759-30412760
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	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	MAFK	chr22:30411885-30412779	IMR90	lung:	n/a	n/a
4	TCF12	chr22:30412577-30414025	SK-N-SH	brain:	n/a	n/a
5	PBX3	chr22:30412614-30413965	SK-N-SH	brain:	n/a	n/a
6	PBX3	chr22:30412632-30413912	SK-N-SH	brain:	n/a	n/a
7	NFIC	chr22:30412600-30413950	SK-N-SH	brain:	n/a	n/a
8	TCF12	chr22:30412592-30413971	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr22:30412565-30413985	SK-N-SH	brain:	n/a	chr22:30413400-30413407 chr22:30413571-30413580
10	FOSL2	chr22:30412750-30413897	SK-N-SH	brain:	n/a	chr22:30413573-30413580 chr22:30413572-30413582 chr22:30413572-30413582 chr22:30413573-30413582
11	JUND	chr22:30412544-30414050	SK-N-SH	brain:	n/a	chr22:30413573-30413580 chr22:30413572-30413582 chr22:30413572-30413582 chr22:30413573-30413582

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30408762..30413096-chr22:30414257..30417266,4	K562	blood:
2	chr22:30410210..30413096-chr22:30414257..30416563,2	K562	blood:

Variant related genes	Relation type
MTMR3	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10222281	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10483156	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10483158	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11090591	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11090592	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11090597	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11090600	0.81[AMR][1000 genomes]
rs11090601	0.81[AMR][1000 genomes]
rs11704206	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11704885	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11705048	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11705207	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11705418	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12165769	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12166755	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12166998	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12169823	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12330007	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12330076	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12627856	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12627944	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12628395	0.83[ASN][1000 genomes]
rs16988381	0.86[CHD][hapmap]
rs17644868	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17644886	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17711461	0.80[CHB][hapmap]
rs17711508	0.80[CHB][hapmap]
rs17713646	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28520101	0.83[ASN][1000 genomes]
rs28635872	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34647160	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3747148	0.90[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs3788418	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.83[ASN][1000 genomes]
rs3788425	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285800	0.80[CHB][hapmap]
rs737905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs737906	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs737907	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs739615	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs916782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9614123	1.00[JPT][hapmap]
rs9620928	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9620929	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9620935	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620936	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620944	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9620948	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9620955	0.81[AMR][1000 genomes]
rs9625883	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9625886	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9625887	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9625889	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625894	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9625895	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625896	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625899	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9625910	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9625914	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9625922	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625924	0.82[EUR][1000 genomes]
rs9625930	0.87[AMR][1000 genomes];0.86[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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