Variant report

Variant	rs7207270
Chromosome Location	chr17:46210434-46210435
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46127435..46129625-chr17:46209916..46212813,2	MCF-7	breast:
2	chr17:46197348..46200242-chr17:46209628..46212447,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10853093	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs11079815	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11079817	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12452103	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1349676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1377201	1.00[CHB][hapmap]
rs1452661	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs188268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1910574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs208006	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs208007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs208013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs208017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs208018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs2123342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2325886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28439030	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28551638	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2924253	1.00[CHB][hapmap]
rs2924255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2924256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2924258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2938471	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2938480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2938482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2957932	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs2957933	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs3792693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4794426	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4794427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4794467	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4794488	0.81[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs5016303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs595874	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6504100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6504101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6504113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7208796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7213530	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7216766	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7220940	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7225140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8066529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8071262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8077814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8081199	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8182234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes]
rs979746	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs9893405	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9899753	1.00[JPT][hapmap]
rs9905460	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46191200-46220800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr17:46197800-46221000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:46199400-46212400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:46200400-46236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr17:46200800-46212400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr17:46201400-46217600	Weak transcription	Fetal Thymus	thymus
7	chr17:46203000-46217000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr17:46204000-46220000	Weak transcription	GM12878-XiMat	blood
9	chr17:46204200-46210800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:46204200-46216600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:46204200-46225200	Weak transcription	Liver	Liver
12	chr17:46204400-46221000	Weak transcription	Thymus	Thymus
13	chr17:46204600-46216600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr17:46204600-46217000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr17:46205000-46214600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr17:46205000-46215400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr17:46205000-46216800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr17:46205000-46217400	Weak transcription	Primary B cells from cord blood	blood
19	chr17:46205400-46217400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr17:46205600-46210800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr17:46205600-46217000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr17:46206400-46220800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr17:46207400-46211000	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr17:46209000-46211200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
25	chr17:46209000-46211200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr17:46209000-46211400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr17:46209400-46211400	Strong transcription	Primary T cells from cord blood	blood
28	chr17:46209600-46210600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr17:46209600-46211200	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr17:46209600-46211200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr17:46209600-46211400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr17:46209600-46216000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr17:46210000-46224200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr17:46210200-46210600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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