Variant report

Variant	rs9620935
Chromosome Location	chr22:30380528-30380529
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30372712..30375729-chr22:30378749..30380961,3	MCF-7	breast:
2	chr22:30363254..30365949-chr22:30378819..30380914,2	K562	blood:

Variant related genes	Relation type
ENSG00000100330	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10222281	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11090591	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11090592	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11090597	0.84[AMR][1000 genomes]
rs11704206	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11704885	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705048	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs11705191	0.81[EUR][1000 genomes]
rs11705207	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705418	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12159277	0.80[CHB][hapmap]
rs12165769	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12166755	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12166998	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12169823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12330007	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12330076	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12627856	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12627866	0.80[CHB][hapmap]
rs12627944	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12628395	0.83[ASN][1000 genomes]
rs12628545	0.80[CHB][hapmap]
rs16988049	0.80[CHB][hapmap]
rs17644868	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17644886	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17647135	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]
rs17711461	0.80[CHB][hapmap]
rs17711508	0.80[CHB][hapmap]
rs17713646	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240364	0.80[CHB][hapmap]
rs2240365	0.80[CHB][hapmap]
rs2240366	0.80[CHB][hapmap]
rs28520101	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28635872	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34647160	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3747148	0.90[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3788418	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.88[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3788425	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285169	0.81[EUR][1000 genomes]
rs7285800	0.80[CHB][hapmap]
rs737905	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737906	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs739615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs740116	0.80[CHB][hapmap]
rs916782	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9614123	1.00[JPT][hapmap]
rs9620928	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9620929	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9620936	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620944	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9620948	0.84[AMR][1000 genomes]
rs9625883	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625886	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625887	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625889	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625894	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625895	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625896	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625899	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9625910	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9625914	0.84[AMR][1000 genomes]
rs9625930	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv523696	chr22:30326102-30381789	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv3591	chr22:30344208-30388897	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30348400-30387200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr22:30350600-30402600	Weak transcription	Aorta	Aorta
3	chr22:30351200-30385800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr22:30351200-30387400	Weak transcription	Ovary	ovary
5	chr22:30352800-30388600	Weak transcription	HepG2	liver
6	chr22:30354600-30390200	Weak transcription	Colonic Mucosa	Colon
7	chr22:30354800-30390400	Weak transcription	Small Intestine	intestine
8	chr22:30358800-30387400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr22:30363400-30427800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr22:30366000-30384200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr22:30366400-30387400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr22:30366600-30390800	Weak transcription	Gastric	stomach
13	chr22:30367000-30426600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr22:30367400-30397800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr22:30368400-30382800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr22:30368400-30387400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr22:30369400-30382600	Weak transcription	Brain Anterior Caudate	brain
18	chr22:30369400-30388400	Weak transcription	NH-A	brain
19	chr22:30370000-30391000	Weak transcription	Fetal Heart	heart
20	chr22:30370200-30388400	Weak transcription	NHLF	lung
21	chr22:30370600-30390800	Weak transcription	Right Ventricle	heart
22	chr22:30370800-30387400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr22:30370800-30390000	Weak transcription	Stomach Mucosa	stomach
24	chr22:30371000-30383200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr22:30371200-30382000	Weak transcription	Brain Substantia Nigra	brain
26	chr22:30371800-30385800	Weak transcription	Lung	lung
27	chr22:30371800-30386600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr22:30373400-30383000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr22:30373400-30388600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr22:30373600-30383400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr22:30373600-30383600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr22:30373600-30388600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr22:30373800-30391400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr22:30374200-30389600	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr22:30374400-30383400	Weak transcription	Brain Hippocampus Middle	brain
36	chr22:30374400-30383600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr22:30374600-30381800	Strong transcription	Primary B cells from cord blood	blood
38	chr22:30374800-30380800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr22:30375200-30386000	Weak transcription	Thymus	Thymus
40	chr22:30375200-30389800	Weak transcription	K562	blood
41	chr22:30375200-30403200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr22:30375400-30381200	Strong transcription	Primary T cells from cord blood	blood
43	chr22:30375400-30390800	Weak transcription	Pancreas	Pancrea
44	chr22:30375800-30381600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr22:30375800-30387400	Weak transcription	Spleen	Spleen
46	chr22:30375800-30388400	Weak transcription	A549	lung
47	chr22:30375800-30389800	Weak transcription	HUVEC	blood vessel
48	chr22:30376000-30383200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr22:30376000-30387200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr22:30376000-30387400	Weak transcription	Brain Germinal Matrix	brain

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