Variant report

Variant	rs534599190
Chromosome Location	chr5:96277981-96277982
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	chr5:96277501-96278211	GM12891	blood:	n/a	n/a
2	POLR2A	chr5:96277520-96277989	GM12892	blood:	n/a	n/a
3	POLR2A	chr5:96277528-96278130	GM12891	blood:	n/a	n/a
4	POLR2A	chr5:96277932-96278048	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96142551..96144780-chr5:96277248..96279292,2	MCF-7	breast:
2	chr5:96275975..96278496-chr5:96297734..96299587,2	K562	blood:

Variant related genes	Relation type
ENSG00000227836	TF binding region
ENSG00000164307	Chromatin interaction
ENSG00000200884	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv980700	chr5:96277931-96279547	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96272600-96281400	Weak transcription	Spleen	Spleen
2	chr5:96272800-96279000	Weak transcription	Esophagus	oesophagus
3	chr5:96273000-96278000	Weak transcription	Lung	lung
4	chr5:96273000-96279000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:96273000-96285000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:96273000-96288000	Weak transcription	Fetal Stomach	stomach
7	chr5:96273000-96299200	Weak transcription	Aorta	Aorta
8	chr5:96273200-96279600	Weak transcription	Fetal Muscle Leg	muscle
9	chr5:96273400-96278000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:96273400-96278400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr5:96273400-96281000	Weak transcription	Fetal Lung	lung
12	chr5:96273400-96292800	Weak transcription	K562	blood
13	chr5:96273600-96280200	Weak transcription	HUVEC	blood vessel
14	chr5:96273800-96278200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr5:96273800-96278800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:96273800-96283000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:96273800-96285000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr5:96273800-96287200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:96273800-96289600	Weak transcription	Fetal Kidney	kidney
20	chr5:96273800-96291200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:96274200-96280000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr5:96274400-96279000	Weak transcription	NHLF	lung
23	chr5:96274400-96279800	Weak transcription	Hela-S3	cervix
24	chr5:96274400-96282000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:96274400-96282000	Weak transcription	A549	lung
26	chr5:96274400-96288200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr5:96274600-96278000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr5:96274600-96279600	Weak transcription	Right Atrium	heart
29	chr5:96274600-96279600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr5:96274600-96281000	Weak transcription	Small Intestine	intestine
31	chr5:96274600-96281200	Weak transcription	Brain Anterior Caudate	brain
32	chr5:96274600-96281200	Weak transcription	Brain Hippocampus Middle	brain
33	chr5:96274600-96286000	Weak transcription	Adipose Nuclei	Adipose
34	chr5:96274600-96287400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr5:96274600-96288000	Weak transcription	Colon Smooth Muscle	Colon
36	chr5:96274600-96288800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr5:96274600-96293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr5:96274600-96298400	Weak transcription	HSMM	muscle
39	chr5:96274800-96288400	Weak transcription	HepG2	liver
40	chr5:96275200-96279600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr5:96275800-96284400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:96275800-96284800	Weak transcription	Primary B cells from cord blood	blood
43	chr5:96276000-96288000	Weak transcription	Fetal Heart	heart
44	chr5:96276400-96278000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:96276400-96279800	Genic enhancers	Primary B cells from peripheral blood	blood
46	chr5:96276400-96279800	Genic enhancers	Primary T cells fromperipheralblood	blood
47	chr5:96276600-96278400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:96276600-96278600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:96276600-96278600	Weak transcription	Osteobl	bone
50	chr5:96276600-96279000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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