Variant report

Variant	rs5749303
Chromosome Location	chr22:31961713-31961714
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31960988..31962788-chr22:32015387..32017206,2	K562	blood:
2	22:31961151-31976153..22:33253287-33262063	K562	blood:
3	22:31961151-31976153..22:32513817-32522138	K562	blood:
4	22:31961151-31976153..22:33030812-33041554	K562	blood:
5	22:31961151-31976153..22:32284948-32287956	K562	blood:
6	chr22:31958875..31961811-chr22:32027409..32029066,2	MCF-7	breast:
7	chr22:31959003..31960813-chr22:31961085..31962780,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227813	Chromatin interaction
ENSG00000234479	Chromatin interaction
ENSG00000183531	Chromatin interaction
ENSG00000251890	Chromatin interaction

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

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

rs_ID	r²[population]
rs1044085	1.00[ASW][hapmap];0.88[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs11089512	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11089514	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11089515	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12166823	0.88[CEU][hapmap];1.00[LWK][hapmap];0.91[TSI][hapmap]
rs12170867	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12171042	0.81[JPT][hapmap]
rs12485048	0.88[CEU][hapmap];0.84[TSI][hapmap]
rs12628465	1.00[MKK][hapmap]
rs1543416	0.81[JPT][hapmap]
rs17821102	0.88[CEU][hapmap];0.90[AFR][1000 genomes]
rs2024747	1.00[ASW][hapmap];0.88[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2092905	0.83[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap]
rs2236033	0.90[JPT][hapmap]
rs2281440	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2295242	0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2295251	0.85[JPT][hapmap]
rs2387	1.00[JPT][hapmap]
rs3818134	0.83[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap]
rs4820051	0.88[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4820979	0.87[CHD][hapmap];0.95[JPT][hapmap]
rs4820980	0.85[CHD][hapmap];0.95[JPT][hapmap]
rs4820983	0.81[JPT][hapmap]
rs5749278	0.88[CEU][hapmap];0.90[AFR][1000 genomes]
rs5749280	0.88[CEU][hapmap];0.90[AFR][1000 genomes]
rs5749293	1.00[ASW][hapmap];0.88[CEU][hapmap];0.83[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs5749301	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5749304	0.91[JPT][hapmap]
rs5749306	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs5753620	1.00[ASW][hapmap];0.88[CEU][hapmap];0.85[CHD][hapmap];0.91[TSI][hapmap]
rs5753622	1.00[ASW][hapmap];0.88[CEU][hapmap];0.85[CHD][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.90[AFR][1000 genomes]
rs5753627	0.88[CEU][hapmap];0.90[AFR][1000 genomes]
rs5753633	1.00[ASW][hapmap];0.88[CEU][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap];0.91[TSI][hapmap];0.90[AFR][1000 genomes]
rs5753635	0.90[AFR][1000 genomes]
rs5753647	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5753650	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5753657	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5753667	0.87[CHD][hapmap];0.95[JPT][hapmap]
rs5753675	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753677	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5753681	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs5753686	0.81[JPT][hapmap]
rs5753687	0.86[ASN][1000 genomes]
rs5753690	0.89[ASN][1000 genomes]
rs5753691	1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs5753714	0.90[JPT][hapmap]
rs5753716	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5753734	0.86[JPT][hapmap]
rs59285943	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5994415	0.90[JPT][hapmap]
rs5998042	0.86[JPT][hapmap]
rs5998054	0.90[JPT][hapmap]
rs5998087	1.00[MKK][hapmap]
rs7289075	0.85[JPT][hapmap]
rs7291918	0.90[JPT][hapmap]
rs738656	0.83[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap]
rs738684	0.85[JPT][hapmap]
rs738702	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs761746	0.80[CHD][hapmap];0.86[JPT][hapmap]
rs8461	0.81[JPT][hapmap]
rs9306268	1.00[LWK][hapmap];1.00[MKK][hapmap]
rs9621269	0.86[CEU][hapmap];0.90[AFR][1000 genomes]
rs9621291	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9621305	0.88[CEU][hapmap];1.00[LWK][hapmap];0.91[TSI][hapmap]
rs9956	0.80[CHD][hapmap];0.81[JPT][hapmap]

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	nsv459872	chr22:31833759-31977594	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv588894	chr22:31833759-31977594	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31893400-31971200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr22:31893600-31970000	Weak transcription	Colonic Mucosa	Colon
3	chr22:31927400-31970000	Weak transcription	NH-A	brain
4	chr22:31927400-31970200	Weak transcription	Fetal Lung	lung
5	chr22:31927400-31979400	Weak transcription	NHDF-Ad	bronchial
6	chr22:31927400-31980000	Weak transcription	HSMMtube	muscle
7	chr22:31927600-31974200	Weak transcription	Small Intestine	intestine
8	chr22:31929800-31985600	Weak transcription	Fetal Kidney	kidney
9	chr22:31933200-31971000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr22:31933600-31979600	Weak transcription	HUVEC	blood vessel
11	chr22:31934000-31981000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr22:31935200-31985400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:31935600-31970000	Weak transcription	HMEC	breast
14	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr22:31941400-31981400	Weak transcription	NHEK	skin
16	chr22:31947000-31970200	Weak transcription	Brain Substantia Nigra	brain
17	chr22:31947000-31970200	Weak transcription	Fetal Muscle Leg	muscle
18	chr22:31947200-31969600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr22:31947400-31968200	Weak transcription	Brain Germinal Matrix	brain
20	chr22:31947400-31968800	Weak transcription	Gastric	stomach
21	chr22:31947400-31968800	Weak transcription	Pancreas	Pancrea
22	chr22:31947400-31969000	Weak transcription	Fetal Brain Female	brain
23	chr22:31947400-31969000	Weak transcription	Lung	lung
24	chr22:31947400-31969200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr22:31947400-31970200	Weak transcription	Ovary	ovary
26	chr22:31947400-31971000	Weak transcription	Aorta	Aorta
27	chr22:31947400-31972800	Weak transcription	Esophagus	oesophagus
28	chr22:31947800-31961800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr22:31947800-31968800	Weak transcription	Spleen	Spleen
30	chr22:31947800-31969000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr22:31947800-31969200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr22:31947800-31970200	Weak transcription	Fetal Intestine Large	intestine
33	chr22:31947800-31970200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr22:31947800-31971000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr22:31947800-31971200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr22:31947800-32009600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr22:31948000-31968400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr22:31948000-31973400	Weak transcription	Liver	Liver
39	chr22:31948200-31968800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr22:31948200-31980000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr22:31949200-31971800	Weak transcription	NHLF	lung
42	chr22:31949200-31973400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr22:31949200-31981600	Weak transcription	Left Ventricle	heart
44	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
45	chr22:31949600-31977800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr22:31949800-31976400	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr22:31950800-31963800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr22:31952800-31967400	Strong transcription	Fetal Thymus	thymus
49	chr22:31954000-31965400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr22:31954000-31968800	Weak transcription	Primary hematopoietic stem cells	blood

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