Variant report

Variant	rs372059653
Chromosome Location	chr5:96129078-96129079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:96128837-96129306	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr5:96128952-96129912	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:96127204..96132361-chr5:96142290..96145057,7	MCF-7	breast:
2	chr5:96119292..96124832-chr5:96125807..96130865,7	K562	blood:
3	chr5:96118389..96123506-chr5:96124152..96130865,8	K562	blood:

Variant related genes	Relation type
ERAP1	TF binding region
ENSG00000164307	Chromatin interaction
ENSG00000248734	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv830411	chr5:96045168-96187817	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv516293	chr5:96070205-96216387	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS 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	18 gene(s)	inside rSNPs	diseases
6	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv1027472	chr5:96081592-96337550	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv432756	chr5:96113844-96234644	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv531967	chr5:96127842-96302702	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96068400-96138200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr5:96068600-96130000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr5:96089200-96137000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr5:96097400-96130000	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr5:96097400-96131800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:96097400-96138400	Strong transcription	Primary B cells from peripheral blood	blood
7	chr5:96097800-96131800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:96098000-96129600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:96098000-96137000	Strong transcription	Fetal Lung	lung
10	chr5:96098000-96137600	Strong transcription	Fetal Thymus	thymus
11	chr5:96104200-96136400	Strong transcription	Dnd41	blood
12	chr5:96107600-96129600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr5:96107800-96138200	Strong transcription	GM12878-XiMat	blood
14	chr5:96108000-96129600	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr5:96110200-96130200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
16	chr5:96110600-96130400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr5:96113800-96137200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:96114600-96131000	Weak transcription	Fetal Brain Male	brain
19	chr5:96114800-96131200	Weak transcription	Right Ventricle	heart
20	chr5:96115200-96141200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:96115400-96142000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:96116200-96141600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:96117400-96137000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr5:96117600-96131800	Strong transcription	Liver	Liver
25	chr5:96119000-96130800	Weak transcription	Psoas Muscle	Psoas
26	chr5:96119000-96142000	Weak transcription	A549	lung
27	chr5:96120800-96129800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
28	chr5:96120800-96130000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr5:96123600-96137000	Strong transcription	Primary B cells from cord blood	blood
30	chr5:96123800-96137200	Strong transcription	Adipose Nuclei	Adipose
31	chr5:96124000-96130400	Strong transcription	Primary T cells from cord blood	blood
32	chr5:96124600-96131000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr5:96124600-96136800	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr5:96124800-96129600	Weak transcription	Colonic Mucosa	Colon
35	chr5:96124800-96130000	Weak transcription	Aorta	Aorta
36	chr5:96124800-96130000	Weak transcription	Esophagus	oesophagus
37	chr5:96126000-96131600	Weak transcription	Fetal Kidney	kidney
38	chr5:96126000-96133200	Strong transcription	HepG2	liver
39	chr5:96126800-96131800	Weak transcription	Fetal Brain Female	brain
40	chr5:96126800-96135600	Weak transcription	Fetal Heart	heart
41	chr5:96126800-96142800	Weak transcription	Brain Germinal Matrix	brain
42	chr5:96127000-96135400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:96127000-96140400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr5:96127000-96142600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr5:96127000-96142800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:96127200-96129400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:96127200-96129400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:96127200-96129400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr5:96127200-96129400	Weak transcription	Pancreas	Pancrea
50	chr5:96127200-96129600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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