Variant report

Variant	rs17516164
Chromosome Location	chr4:119202284-119202285
allele	C/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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:118992420..118994434-chr4:119201679..119204386,2	K562	blood:
2	chr4:119200552..119202977-chr4:119264974..119267166,2	MCF-7	breast:
3	chr4:119201136..119203299-chr4:119229630..119231943,2	MCF-7	breast:
4	chr4:119200823..119203757-chr4:119253741..119255718,2	K562	blood:
5	chr4:119201789..119203327-chr4:119280623..119282185,2	K562	blood:
6	chr4:119202026..119204755-chr4:119234845..119237518,2	K562	blood:
7	chr4:119199845..119203643-chr4:119232853..119237501,6	K562	blood:
8	chr4:119200823..119205436-chr4:119252231..119259407,8	K562	blood:
9	chr4:119201999..119202832-chr4:119273781..119274493,4	MCF-7	breast:
10	chr4:119199692..119204423-chr4:119272219..119275323,9	MCF-7	breast:
11	chr4:119201396..119202987-chr4:119255869..119257846,2	MCF-7	breast:
12	chr4:119199307..119202288-chr4:119603050..119607934,6	MCF-7	breast:
13	chr4:119202140..119202687-chr4:119273772..119274535,2	MCF-7	breast:
14	chr4:119201888..119204212-chr4:119242827..119245700,4	K562	blood:
15	chr4:119201888..119204212-chr4:119242827..119245536,2	K562	blood:
16	chr4:119198677..119205956-chr4:119272273..119279963,18	MCF-7	breast:
17	chr4:119202174..119205868-chr4:119258505..119262976,4	MCF-7	breast:
18	chr4:116021774..116024310-chr4:119200691..119202640,2	MCF-7	breast:
19	chr4:119201990..119204479-chr4:119229684..119234050,3	K562	blood:
20	chr4:119202015..119204587-chr4:119283908..119285983,2	K562	blood:
21	chr4:117758900..117760975-chr4:119201359..119203236,2	MCF-7	breast:
22	chr4:119200744..119202697-chr4:119249300..119251845,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164099	Chromatin interaction
ENSG00000201752	Chromatin interaction
ENSG00000145388	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10017003	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11931079	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13101451	0.87[CEU][hapmap];1.00[ASN][1000 genomes]
rs13103629	1.00[ASN][1000 genomes]
rs13104251	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13109564	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13119795	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13120016	1.00[ASN][1000 genomes]
rs13123277	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13125461	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13127368	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13128545	1.00[ASN][1000 genomes]
rs13130953	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13131623	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13132957	0.87[CEU][hapmap];1.00[ASN][1000 genomes]
rs13135360	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13136897	1.00[ASN][1000 genomes]
rs13138385	1.00[ASW][hapmap];0.93[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13138982	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13140433	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13141841	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13142184	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13144171	1.00[ASN][1000 genomes]
rs13144419	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13146959	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13151098	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1608506	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17516219	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17516233	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17516389	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17516512	0.87[CEU][hapmap];1.00[ASN][1000 genomes]
rs17516526	0.86[CEU][hapmap];1.00[ASN][1000 genomes]
rs17594018	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17594257	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17594447	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17594468	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17594559	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17594740	0.86[CEU][hapmap];1.00[ASN][1000 genomes]
rs17594782	0.87[CEU][hapmap];1.00[ASN][1000 genomes]
rs17626479	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34082100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34101813	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34185290	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34202571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34284204	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34302716	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34531766	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34723948	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34804902	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34835262	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34928611	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34958556	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35054481	1.00[ASN][1000 genomes]
rs35215908	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35420005	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35553303	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35612621	1.00[ASN][1000 genomes]
rs35650624	1.00[ASN][1000 genomes]
rs35749089	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35774897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35861609	1.00[ASN][1000 genomes]
rs35872631	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35875491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35876590	1.00[ASN][1000 genomes]
rs35909687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35983699	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36058627	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55699931	1.00[ASN][1000 genomes]
rs71608346	1.00[ASN][1000 genomes]
rs71608350	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71608351	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71608352	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71608355	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71608356	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71608358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71608359	1.00[ASN][1000 genomes]
rs71608361	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71608363	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv1794655	chr4:119170156-119212103	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119199200-119202600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:119199200-119202600	Active TSS	Right Ventricle	heart
3	chr4:119200000-119202400	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr4:119200200-119202400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
5	chr4:119200200-119202600	Transcr. at gene 5' and 3'	A549	lung
6	chr4:119200200-119202600	Transcr. at gene 5' and 3'	NHEK	skin
7	chr4:119200200-119203400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
8	chr4:119200400-119202400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
9	chr4:119200400-119202400	Transcr. at gene 5' and 3'	HMEC	breast
10	chr4:119200400-119202600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:119200400-119202800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:119200400-119202800	Transcr. at gene 5' and 3'	Osteobl	bone
13	chr4:119200400-119203400	Transcr. at gene 5' and 3'	K562	blood
14	chr4:119200600-119202600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:119200600-119202600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
16	chr4:119200600-119202600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr4:119200600-119202800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
18	chr4:119200600-119203000	Transcr. at gene 5' and 3'	NH-A	brain
19	chr4:119200600-119203400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
20	chr4:119200800-119203000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:119200800-119204000	Weak transcription	Spleen	Spleen
22	chr4:119200800-119212800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:119201000-119202400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:119201000-119202400	Enhancers	Colon Smooth Muscle	Colon
25	chr4:119201000-119202600	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
26	chr4:119201000-119202600	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
27	chr4:119201000-119202800	Enhancers	Stomach Mucosa	stomach
28	chr4:119201000-119203000	Weak transcription	Ovary	ovary
29	chr4:119201000-119203200	Weak transcription	Small Intestine	intestine
30	chr4:119201000-119203600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:119201000-119204600	Weak transcription	Placenta	Placenta
32	chr4:119201000-119205600	Weak transcription	Aorta	Aorta
33	chr4:119201200-119202400	Genic enhancers	Primary B cells from peripheral blood	blood
34	chr4:119201200-119202600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:119201200-119202600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:119201200-119202600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr4:119201200-119203000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr4:119201400-119202400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr4:119201400-119202400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:119201400-119202400	Weak transcription	Fetal Brain Male	brain
41	chr4:119201400-119202400	Enhancers	Fetal Brain Female	brain
42	chr4:119201400-119202400	Flanking Active TSS	HepG2	liver
43	chr4:119201400-119202600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr4:119201400-119202600	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr4:119201400-119203200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr4:119201400-119203200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:119201400-119204000	Strong transcription	Fetal Muscle Trunk	muscle
48	chr4:119201400-119204000	Weak transcription	Pancreas	Pancrea
49	chr4:119201400-119204600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr4:119201400-119204600	Weak transcription	Rectal Smooth Muscle	rectum

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