Variant report

Variant	rs12601412
Chromosome Location	chr17:46208793-46208794
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46102745..46105471-chr17:46206069..46210163,5	K562	blood:
2	chr17:46102222..46103170-chr17:46208285..46209232,6	K562	blood:
3	chr17:46206531..46208867-chr17:46695496..46698467,2	K562	blood:
4	chr17:46109109..46109883-chr17:46208236..46209220,2	MCF-7	breast:
5	chr17:46101739..46105145-chr17:46207358..46210173,3	MCF-7	breast:
6	chr17:46103572..46104350-chr17:46208345..46209728,6	MCF-7	breast:
7	chr17:46104959..46105495-chr17:46208493..46209072,2	MCF-7	breast:
8	chr17:46157288..46158218-chr17:46208391..46209224,3	K562	blood:
9	chr17:46102567..46103108-chr17:46208472..46209147,2	MCF-7	breast:
10	chr17:46157351..46158291-chr17:46208060..46209189,5	MCF-7	breast:
11	chr17:46102152..46102814-chr17:46208435..46209175,3	MCF-7	breast:
12	chr17:46103505..46104454-chr17:46208306..46209160,6	K562	blood:

No data

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11079811	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11079812	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11868509	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12449324	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12449529	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12602010	0.95[CEU][hapmap];1.00[YRI][hapmap]
rs12948653	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12953085	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1316643	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16954750	0.84[YRI][hapmap]
rs17619103	0.95[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34130316	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34449497	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35371915	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35999311	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7215582	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7221416	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7224648	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8438	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]

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:40 , 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	chr17:46196800-46208800	Weak transcription	K562	blood
3	chr17:46197800-46221000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr17:46199400-46212400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:46199800-46209600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr17:46200400-46236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr17:46200600-46209000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr17:46200600-46209600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr17:46200800-46209000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr17:46200800-46212400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr17:46201200-46209600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr17:46201400-46217600	Weak transcription	Fetal Thymus	thymus
13	chr17:46203000-46217000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr17:46203800-46209000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr17:46204000-46220000	Weak transcription	GM12878-XiMat	blood
16	chr17:46204200-46210800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr17:46204200-46216600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr17:46204200-46225200	Weak transcription	Liver	Liver
19	chr17:46204400-46221000	Weak transcription	Thymus	Thymus
20	chr17:46204600-46208800	Weak transcription	Adipose Nuclei	Adipose
21	chr17:46204600-46209600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr17:46204600-46209600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr17:46204600-46209600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr17:46204600-46216600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr17:46204600-46217000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr17:46204800-46209600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr17:46205000-46214600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr17:46205000-46215400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr17:46205000-46216800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr17:46205000-46217400	Weak transcription	Primary B cells from cord blood	blood
31	chr17:46205400-46217400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr17:46205600-46209600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr17:46205600-46210800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr17:46205600-46217000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr17:46206400-46220800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr17:46207400-46211000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr17:46208200-46209400	Weak transcription	Primary T cells from cord blood	blood
38	chr17:46208400-46208800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr17:46208400-46209000	Enhancers	Brain Hippocampus Middle	brain
40	chr17:46208600-46208800	Flanking Active TSS	Brain Germinal Matrix	brain

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