Variant report

Variant	rs34033530
Chromosome Location	chr17:46103004-46103005
allele	G/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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46101739..46105145-chr17:46207358..46210173,3	MCF-7	breast:
2	chr17:46101075..46105793-chr17:46203518..46208640,6	MCF-7	breast:
3	chr17:46102017..46103055-chr17:46695675..46696647,5	K562	blood:
4	chr17:46101220..46105616-chr17:46211133..46214847,5	K562	blood:
5	chr17:46101105..46103600-chr17:46138734..46141619,2	K562	blood:
6	chr17:46100290..46104941-chr17:46183793..46186470,6	MCF-7	breast:
7	chr17:46035894..46038484-chr17:46099628..46103418,4	MCF-7	breast:
8	chr17:46102069..46103134-chr17:46150737..46152351,16	K562	blood:
9	chr17:46102233..46104443-chr17:46148232..46151120,2	K562	blood:
10	chr17:46102208..46103015-chr17:46955283..46956936,4	K562	blood:
11	chr17:46102704..46105485-chr17:46150295..46153343,3	MCF-7	breast:
12	chr17:45973640..45975276-chr17:46101393..46103848,2	MCF-7	breast:
13	chr17:46037650..46039403-chr17:46103003..46105504,2	K562	blood:
14	chr17:46102177..46103619-chr17:46151450..46152271,5	MCF-7	breast:
15	chr17:46102745..46105471-chr17:46206069..46210163,5	K562	blood:
16	chr17:46102978..46103598-chr17:46113979..46114735,2	MCF-7	breast:
17	chr17:46102966..46105388-chr17:46145641..46147394,2	K562	blood:
18	chr17:46102373..46103175-chr17:46695748..46696490,3	MCF-7	breast:
19	chr17:46100592..46104586-chr17:46183324..46186520,4	K562	blood:
20	chr17:46102851..46105550-chr17:46199872..46202014,2	MCF-7	breast:
21	chr17:46102447..46103014-chr17:46258042..46258857,2	MCF-7	breast:
22	chr17:46100886..46103222-chr17:46270913..46273515,2	MCF-7	breast:
23	chr17:46102222..46103170-chr17:46208285..46209232,6	K562	blood:
24	chr17:46101312..46103922-chr17:46212522..46214057,2	MCF-7	breast:
25	chr17:46047240..46049948-chr17:46101636..46104344,3	MCF-7	breast:
26	chr17:46037638..46039949-chr17:46100422..46103113,2	MCF-7	breast:
27	chr11:62607625..62609532-chr17:46102709..46105025,2	K562	blood:
28	chr17:46033388..46035885-chr17:46101144..46103907,2	MCF-7	breast:
29	chr17:46102567..46103108-chr17:46208472..46209147,2	MCF-7	breast:
30	chr17:46102421..46103102-chr17:46174635..46175180,2	MCF-7	breast:
31	chr17:46101261..46104972-chr17:46659979..46662985,3	K562	blood:
32	chr17:46102299..46104272-chr17:46156219..46158747,2	MCF-7	breast:
33	chr17:46102851..46105314-chr17:46237154..46238995,2	MCF-7	breast:
34	chr17:46070659..46072225-chr17:46102465..46104720,2	K562	blood:
35	chr17:46101351..46104299-chr17:46183324..46186063,2	K562	blood:
36	chr17:46101917..46105138-chr17:46176105..46179935,5	K562	blood:
37	chr17:46046874..46048813-chr17:46100923..46104280,3	MCF-7	breast:
38	chr17:46088611..46089553-chr17:46102607..46103180,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000005243	Chromatin interaction
ENSG00000108468	Chromatin interaction
ENSG00000207947	Chromatin interaction
ENSG00000002919	Chromatin interaction
ENSG00000167183	Chromatin interaction
ENSG00000120093	Chromatin interaction
ENSG00000108465	Chromatin interaction
ENSG00000141293	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11655047	0.86[AFR][1000 genomes]
rs12941306	1.00[AMR][1000 genomes]
rs12942412	1.00[AMR][1000 genomes]
rs12944699	1.00[AMR][1000 genomes]
rs12945188	1.00[AMR][1000 genomes]
rs12945362	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12945768	1.00[AMR][1000 genomes]
rs12947761	1.00[AMR][1000 genomes]
rs12947966	1.00[AMR][1000 genomes]
rs12948207	1.00[AMR][1000 genomes]
rs16952687	1.00[AMR][1000 genomes]
rs34038169	1.00[AMR][1000 genomes]
rs34153693	1.00[AMR][1000 genomes]
rs34166016	1.00[AMR][1000 genomes]
rs34358803	1.00[AMR][1000 genomes]
rs34632031	1.00[AMR][1000 genomes]
rs34737931	1.00[AFR][1000 genomes]
rs34822864	1.00[AMR][1000 genomes]
rs34958507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35177469	1.00[AMR][1000 genomes]
rs35273388	1.00[AMR][1000 genomes]
rs35350665	1.00[AMR][1000 genomes]
rs35534834	1.00[AMR][1000 genomes]
rs35551276	1.00[AMR][1000 genomes]
rs35647888	1.00[AMR][1000 genomes]
rs35677091	1.00[AMR][1000 genomes]
rs35711165	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35751035	1.00[AMR][1000 genomes]
rs35766594	1.00[AMR][1000 genomes]
rs35778085	1.00[AMR][1000 genomes]
rs35795560	1.00[AMR][1000 genomes]
rs35848720	1.00[AMR][1000 genomes]
rs35928933	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36059789	1.00[AMR][1000 genomes]
rs36090279	1.00[AMR][1000 genomes]
rs56078988	1.00[AMR][1000 genomes]
rs56363348	1.00[AMR][1000 genomes]
rs57864674	1.00[AMR][1000 genomes]
rs57948485	1.00[AMR][1000 genomes]
rs58974249	1.00[AMR][1000 genomes]
rs59483607	1.00[AMR][1000 genomes]
rs59727791	1.00[AMR][1000 genomes]
rs60224300	1.00[AMR][1000 genomes]
rs60525548	1.00[AMR][1000 genomes]
rs6503951	1.00[AMR][1000 genomes]
rs71377331	1.00[AMR][1000 genomes]
rs71377332	1.00[AMR][1000 genomes]
rs71377334	1.00[AMR][1000 genomes]
rs71377338	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71377341	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71377342	1.00[AMR][1000 genomes]
rs71377352	1.00[AMR][1000 genomes]
rs7208490	1.00[EUR][1000 genomes]
rs73985416	1.00[AMR][1000 genomes]
rs73985417	1.00[AMR][1000 genomes]
rs73985418	1.00[AMR][1000 genomes]
rs73985419	1.00[AMR][1000 genomes]
rs73985421	1.00[AMR][1000 genomes]
rs73985422	1.00[AMR][1000 genomes]
rs73985424	1.00[AMR][1000 genomes]
rs73985479	1.00[AMR][1000 genomes]
rs8075711	1.00[AMR][1000 genomes]

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	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46100400-46103400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr17:46100400-46103800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:46100600-46103200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr17:46100800-46103200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr17:46100800-46103200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr17:46101000-46103200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr17:46101200-46103200	Active TSS	Psoas Muscle	Psoas
8	chr17:46101400-46103200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:46101400-46103400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr17:46101400-46104200	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr17:46101800-46103200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr17:46101800-46103200	Weak transcription	Aorta	Aorta
13	chr17:46102000-46103200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr17:46102200-46103200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr17:46102200-46103200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr17:46102200-46103200	Active TSS	Fetal Brain Female	brain
17	chr17:46102400-46103200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr17:46102400-46103200	Active TSS	Fetal Kidney	kidney
19	chr17:46102400-46103400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr17:46102400-46103400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr17:46102600-46103200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:46102600-46104600	Enhancers	Stomach Mucosa	stomach
23	chr17:46102800-46103200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr17:46102800-46103200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr17:46102800-46103200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr17:46102800-46103200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr17:46102800-46103200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr17:46102800-46103200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr17:46102800-46103200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr17:46102800-46103200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr17:46102800-46103200	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr17:46102800-46103200	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr17:46102800-46103200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
34	chr17:46102800-46103200	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr17:46102800-46103200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr17:46102800-46103200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr17:46102800-46103200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr17:46102800-46103200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr17:46102800-46103200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr17:46102800-46103200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr17:46102800-46103200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr17:46102800-46103200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr17:46102800-46103200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr17:46102800-46103200	Flanking Active TSS	Liver	Liver
45	chr17:46102800-46103200	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr17:46102800-46103200	Flanking Active TSS	Fetal Intestine Large	intestine
47	chr17:46102800-46103200	Flanking Active TSS	Fetal Lung	lung
48	chr17:46102800-46103200	Flanking Active TSS	Fetal Stomach	stomach
49	chr17:46102800-46103200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
50	chr17:46102800-46103200	Flanking Active TSS	Left Ventricle	heart

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