Variant report

Variant	rs71608358
Chromosome Location	chr4:119203479-119203480
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:118992420..118994434-chr4:119201679..119204386,2	K562	blood:
2	chr4:119200823..119203757-chr4:119253741..119255718,2	K562	blood:
3	chr4:119202026..119204755-chr4:119234845..119237518,2	K562	blood:
4	chr4:119203107..119204867-chr4:119240756..119242406,2	K562	blood:
5	chr4:119183189..119185832-chr4:119202442..119204313,2	K562	blood:
6	chr4:119199845..119203643-chr4:119232853..119237501,6	K562	blood:
7	chr4:119202799..119206241-chr4:119218807..119222777,4	MCF-7	breast:
8	chr4:119200823..119205436-chr4:119252231..119259407,8	K562	blood:
9	chr4:119199692..119204423-chr4:119272219..119275323,9	MCF-7	breast:
10	chr4:119203054..119205344-chr4:119252768..119255256,2	MCF-7	breast:
11	chr4:119201888..119204212-chr4:119242827..119245700,4	K562	blood:
12	chr4:119201888..119204212-chr4:119242827..119245536,2	K562	blood:
13	chr4:119198677..119205956-chr4:119272273..119279963,18	MCF-7	breast:
14	chr4:119202174..119205868-chr4:119258505..119262976,4	MCF-7	breast:
15	chr4:119201990..119204479-chr4:119229684..119234050,3	K562	blood:
16	chr4:119202395..119204664-chr4:119270444..119272210,2	MCF-7	breast:
17	chr4:119202015..119204587-chr4:119283908..119285983,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164099	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	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	1.00[ASN][1000 genomes]
rs13135360	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	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[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]
rs17516164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17516219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17516233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17516389	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17516512	1.00[ASN][1000 genomes]
rs17516526	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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17594559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17594740	1.00[ASN][1000 genomes]
rs17594782	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]
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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119200800-119204000	Weak transcription	Spleen	Spleen
2	chr4:119200800-119212800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:119201000-119203600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:119201000-119204600	Weak transcription	Placenta	Placenta
5	chr4:119201000-119205600	Weak transcription	Aorta	Aorta
6	chr4:119201400-119204000	Strong transcription	Fetal Muscle Trunk	muscle
7	chr4:119201400-119204000	Weak transcription	Pancreas	Pancrea
8	chr4:119201400-119204600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:119201400-119204600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:119201400-119205400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr4:119201400-119206200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr4:119201400-119207400	Weak transcription	Esophagus	oesophagus
13	chr4:119201400-119216200	Weak transcription	Lung	lung
14	chr4:119201400-119223800	Weak transcription	Gastric	stomach
15	chr4:119201600-119204800	Weak transcription	Colonic Mucosa	Colon
16	chr4:119201800-119203600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr4:119201800-119204200	Enhancers	Fetal Heart	heart
18	chr4:119201800-119205200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr4:119202000-119204800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:119202000-119205400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:119202200-119203800	Genic enhancers	Primary T cells from cord blood	blood
22	chr4:119202200-119203800	Weak transcription	Brain Anterior Caudate	brain
23	chr4:119202200-119204000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:119202200-119204800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr4:119202200-119204800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr4:119202200-119205400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr4:119202200-119205600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr4:119202200-119205800	Enhancers	Liver	Liver
29	chr4:119202200-119208800	Weak transcription	Thymus	Thymus
30	chr4:119202200-119209400	Weak transcription	Fetal Stomach	stomach
31	chr4:119202200-119210800	Weak transcription	Brain Angular Gyrus	brain
32	chr4:119202200-119211600	Weak transcription	Brain Germinal Matrix	brain
33	chr4:119202200-119225000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:119202400-119203600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr4:119202400-119203600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
36	chr4:119202400-119203600	Enhancers	Fetal Kidney	kidney
37	chr4:119202400-119203600	Genic enhancers	Fetal Lung	lung
38	chr4:119202400-119204000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr4:119202400-119204200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr4:119202400-119204600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr4:119202400-119206000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:119202400-119220800	Weak transcription	Fetal Brain Female	brain
43	chr4:119202600-119203600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:119202600-119203800	Genic enhancers	A549	lung
45	chr4:119202600-119204400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:119202600-119205200	Strong transcription	Primary B cells from cord blood	blood
47	chr4:119202600-119205200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr4:119202600-119205400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr4:119202600-119205600	Strong transcription	Fetal Thymus	thymus
50	chr4:119202600-119207000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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