Variant report

Variant	rs321617
Chromosome Location	chr17:33915246-33915247
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:33894766..33896836-chr17:33913022..33916399,3	MCF-7	breast:
2	chr17:33913527..33915363-chr17:34134013..34136643,3	MCF-7	breast:
3	chr17:33903370..33909494-chr17:33910892..33920548,27	MCF-7	breast:
4	chr14:67707832..67708382-chr17:33914542..33915288,2	Hela-S3	cervix:
5	chr17:33865496..33867936-chr17:33913565..33917669,3	K562	blood:

Variant related genes	Relation type
ENSG00000072415	Chromatin interaction
ENSG00000267035	Chromatin interaction
ENSG00000172660	Chromatin interaction
ENSG00000267578	Chromatin interaction
ENSG00000267321	Chromatin interaction
ENSG00000006125	Chromatin interaction
ENSG00000108733	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1049379	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12150359	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1476553	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs161182	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs161183	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs161184	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1634684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs167691	0.85[ASN][1000 genomes]
rs178649	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2124246	0.85[ASN][1000 genomes]
rs2124247	0.84[ASN][1000 genomes]
rs225245	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs225255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs225269	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs225272	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs225273	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs225281	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs225282	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs225284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225290	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225293	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225299	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225302	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226088	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs226426	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs226428	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs226432	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs226434	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs226439	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs226441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2285742	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2301730	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs321596	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs321599	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs321601	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs321607	0.83[ASN][1000 genomes]
rs321608	0.83[ASN][1000 genomes]
rs321616	0.85[CEU][hapmap]
rs321618	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3890901	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4796103	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6505489	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6505490	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6505491	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6505492	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6505493	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71366475	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs720774	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7217565	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7221081	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7221096	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7406966	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8064556	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8067294	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8073375	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8078905	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9635770	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][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	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 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	chr17:33913600-33915400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:33913600-33915400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr17:33913600-33915400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr17:33913600-33915400	Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr17:33913600-33915400	Active TSS	Brain Cingulate Gyrus	brain
6	chr17:33913600-33915400	Active TSS	Brain Hippocampus Middle	brain
7	chr17:33913600-33915400	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr17:33913600-33915400	Active TSS	Fetal Lung	lung
9	chr17:33913600-33915400	Active TSS	Rectal Smooth Muscle	rectum
10	chr17:33913600-33915400	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr17:33913600-33915400	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr17:33913600-33915600	Active TSS	H1 Cell Line	embryonic stem cell
13	chr17:33913600-33915600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr17:33913600-33915600	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr17:33913600-33915600	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr17:33913600-33915600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr17:33913600-33915600	Active TSS	GM12878-XiMat	blood
18	chr17:33913600-33915800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr17:33913600-33915800	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr17:33913600-33916200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr17:33913600-33916400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr17:33913600-33916400	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr17:33913600-33916400	Active TSS	HMEC	breast
24	chr17:33913600-33916800	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr17:33913800-33915400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:33913800-33915400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:33913800-33915400	Active TSS	Aorta	Aorta
28	chr17:33913800-33915400	Active TSS	Colon Smooth Muscle	Colon
29	chr17:33913800-33915400	Active TSS	Fetal Muscle Trunk	muscle
30	chr17:33913800-33915400	Active TSS	Left Ventricle	heart
31	chr17:33913800-33915400	Active TSS	Psoas Muscle	Psoas
32	chr17:33913800-33915400	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr17:33913800-33915600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr17:33913800-33915600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr17:33913800-33915600	Active TSS	Brain Angular Gyrus	brain
36	chr17:33913800-33915600	Active TSS	HSMM	muscle
37	chr17:33913800-33915800	Active TSS	H9 Cell Line	embryonic stem cell
38	chr17:33913800-33915800	Active TSS	Ovary	ovary
39	chr17:33913800-33915800	Active TSS	Right Ventricle	heart
40	chr17:33913800-33916000	Active TSS	Right Atrium	heart
41	chr17:33913800-33916200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr17:33913800-33916600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr17:33913800-33916600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr17:33914000-33915400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr17:33914000-33915400	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr17:33914000-33915400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr17:33914000-33915400	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr17:33914000-33915400	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr17:33914000-33915400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr17:33914000-33915400	Active TSS	Primary T killer memory cells from peripheral blood	blood

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