Variant report

Variant	rs531572647
Chromosome Location	chr5:177669512-177669513
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:177664512..177669563-chr5:177672713..177676620,5	K562	blood:
2	chr5:177669025..177670554-chr5:177680553..177683380,2	MCF-7	breast:
3	chr5:177667122..177671581-chr5:177672725..177675759,6	K562	blood:
4	chr5:177666998..177669633-chr5:177705585..177707860,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
4	nsv482872	chr5:177580298-177744381	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	106 gene(s)	inside rSNPs	diseases
5	nsv1021981	chr5:177620372-177825272	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
6	nsv537967	chr5:177620372-177825272	Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
7	nsv1024689	chr5:177638936-177926244	Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv537968	chr5:177638936-177926244	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1018031	chr5:177655010-177746378	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	nsv537969	chr5:177655010-177746378	Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	nsv883195	chr5:177655194-177690539	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv883196	chr5:177655194-177690978	Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv883197	chr5:177655194-177707204	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	nsv1025291	chr5:177657927-177756215	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	nsv537970	chr5:177657927-177756215	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
16	nsv527792	chr5:177659075-177675217	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	nsv883198	chr5:177659075-177690539	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
18	nsv883199	chr5:177661902-177717640	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
19	nsv517167	chr5:177665342-177675217	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv883200	chr5:177665342-177717640	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
21	nsv883201	chr5:177665342-177746863	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
22	esv1849204	chr5:177666243-177676831	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv883202	chr5:177669413-177715291	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	7 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	chr5:177661400-177669600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:177661600-177671600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr5:177661800-177669800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr5:177662200-177674800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:177662600-177669600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:177664000-177669800	Enhancers	Placenta	Placenta
7	chr5:177664200-177669600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:177664200-177669800	Enhancers	Lung	lung
9	chr5:177666000-177669600	Enhancers	Spleen	Spleen
10	chr5:177666400-177670800	Weak transcription	Pancreas	Pancrea
11	chr5:177666400-177673400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:177666400-177675800	Weak transcription	Esophagus	oesophagus
13	chr5:177666800-177669600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:177667000-177669600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr5:177667400-177669600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr5:177667400-177670000	Enhancers	Fetal Muscle Leg	muscle
17	chr5:177667600-177669800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr5:177668400-177669600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:177668400-177670000	Enhancers	Primary hematopoietic stem cells	blood
20	chr5:177668400-177674600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:177668600-177670000	Enhancers	Right Ventricle	heart
22	chr5:177668600-177674600	Weak transcription	Thymus	Thymus
23	chr5:177668800-177669800	Enhancers	Left Ventricle	heart
24	chr5:177669000-177669600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr5:177669000-177673400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr5:177669000-177673800	Weak transcription	Fetal Thymus	thymus
27	chr5:177669000-177674400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr5:177669000-177676000	Weak transcription	GM12878-XiMat	blood
29	chr5:177669200-177669800	Enhancers	Fetal Muscle Trunk	muscle
30	chr5:177669200-177671600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:177669200-177672000	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr5:177669200-177674200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr5:177669200-177674800	Weak transcription	Primary B cells from cord blood	blood
34	chr5:177669200-177677000	Weak transcription	Right Atrium	heart
35	chr5:177669400-177669600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:177669400-177669600	Enhancers	Liver	Liver
37	chr5:177669400-177669600	Enhancers	Brain Hippocampus Middle	brain
38	chr5:177669400-177669800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr5:177669400-177671400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:177669400-177674800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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