Variant report

Variant	rs555476438
Chromosome Location	chr5:7849600-7849601
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr5:7849518-7850395	H1-hESC	embryonic stem cell:	n/a	chr5:7849940-7849952 chr5:7850372-7850381 chr5:7849941-7849948 chr5:7849941-7849948 chr5:7849941-7849948 chr5:7850062-7850074

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:7849599-7849649	AG09319	gingival:	n/a
2	chr5:7849599-7849649	BJ	skin:	n/a
3	chr5:7849599-7849649	GM06990	blood:	n/a
4	chr5:7849599-7849649	Jurkat	blood:	n/a
5	chr5:7849599-7849649	HL-60	blood:	n/a
6	chr5:7849599-7849649	HCM	heart:	n/a
7	chr5:7849599-7849649	CMK	blood:	n/a
8	chr5:7849599-7849649	AG10803	skin:	n/a
9	chr5:7849599-7849649	HRCEpiC	kidney:	n/a
10	chr5:7849599-7849649	NB4	blood:	n/a
11	chr5:7849599-7849649	AG04449	skin:	fetal
12	chr5:7849599-7849649	NH-A	brain:	n/a
13	chr5:7849599-7849649	HNPCEpiC	eye:	n/a
14	chr5:7849599-7849649	AoSMC	blood vessel:	n/a
15	chr5:7849599-7849649	HepG2	liver:	n/a
16	chr5:7849599-7849649	U87	brain:	n/a
17	chr5:7849599-7849649	HMEC	breast:	n/a
18	chr5:7849599-7849649	PrEC	prostate:	n/a
19	chr5:7849599-7849649	PANC-1	pancreas:	n/a
20	chr5:7849599-7849649	HCF	heart:	n/a
21	chr5:7849599-7849649	NT2-D1	testis:	n/a
22	chr5:7849599-7849649	MCF10A-Er-Src	breast:	n/a
23	chr5:7849599-7849649	GM19239	blood:	n/a
24	chr5:7849599-7849649	HCPEpiC	choroid plexus:	n/a
25	chr5:7849599-7849649	ovcar-3	ovarian:	n/a
26	chr5:7849599-7849649	SAEC	small airway:	n/a
27	chr5:7849599-7849649	AG04450	lung:	fetal
28	chr5:7849599-7849649	MCF-7	breast:	n/a
29	chr5:7849599-7849649	ProgFib	skin:	n/a
30	chr5:7849599-7849649	HIPEpiC	eye:	n/a
31	chr5:7849599-7849649	NHBE	bronchial:	n/a
32	chr5:7849599-7849649	HPAEpiC	pulmonary alveolar:	n/a
33	chr5:7849599-7849649	GM12878	blood:	n/a
34	chr5:7849599-7849649	HEEpiC	esophagus:	n/a
35	chr5:7849599-7849649	SK-N-SH_RA	brain:	n/a
36	chr5:7849599-7849649	PFSK-1	brain:	n/a
37	chr5:7849599-7849649	AG09309	skin:	n/a
38	chr5:7849599-7849649	GM12892	blood:	n/a
39	chr5:7849599-7849649	HUVEC	blood vessel:	n/a
40	chr5:7849599-7849649	NHDF-neo	bronchial:	n/a
41	chr5:7849599-7849649	IMR90	lung:	fetal
42	chr5:7849599-7849649	BE2_C	brain:	n/a
43	chr5:7849599-7849649	HRE	kidney:	n/a
44	chr5:7849599-7849649	RPTEC	kidney:	n/a
45	chr5:7849599-7849649	HRPEpiC	eye:	n/a
46	chr5:7849599-7849649	HCT-116	colon:	n/a
47	chr5:7849599-7849649	SK-N-SH	brain:	n/a
48	chr5:7849599-7849649	H1-hESC	embryonic stem cell:	embryo
49	chr5:7849599-7849649	A549	lung:	n/a
50	chr5:7849599-7849649	HEK293	kidney:	embryo

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:7849253..7853514-chr5:7868734..7871211,5	MCF-7	breast:
2	chr5:7843515..7845259-chr5:7848179..7851160,2	MCF-7	breast:
3	chr5:7848000..7849611-chr5:7874287..7876692,2	MCF-7	breast:

No data

Variant related genes	Relation type
MTRR	TF binding region
MTRR	CpG island
ENSG00000124275	Chromatin interaction
ENSG00000124279	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS 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	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv461927	chr5:7757812-7854289	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv597004	chr5:7757812-7854289	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3436798	chr5:7849477-7852325	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3440712	chr5:7849552-7852150	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7849000-7849600	Enhancers	Fetal Brain Male	brain
2	chr5:7849000-7850200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:7849000-7851000	Weak transcription	HSMM	muscle
4	chr5:7849200-7849600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
5	chr5:7849200-7849800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:7849200-7849800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:7849400-7849600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
8	chr5:7849400-7849600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
9	chr5:7849400-7849600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:7849400-7849600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr5:7849400-7849600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
12	chr5:7849400-7849600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:7849400-7849600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:7849400-7849600	Enhancers	Brain Anterior Caudate	brain
15	chr5:7849400-7849600	Active TSS	Brain Cingulate Gyrus	brain
16	chr5:7849400-7849600	Enhancers	Brain Germinal Matrix	brain
17	chr5:7849400-7849600	Enhancers	Brain Hippocampus Middle	brain
18	chr5:7849400-7849600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr5:7849400-7849600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:7849400-7849600	Enhancers	Fetal Brain Female	brain
21	chr5:7849400-7849600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
22	chr5:7849400-7849800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
23	chr5:7849400-7849800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr5:7849400-7849800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
25	chr5:7849400-7850000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:7849400-7850000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr5:7849400-7850400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:7849600-7849800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:7849600-7849800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:7849600-7849800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:7849600-7849800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:7849600-7849800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:7849600-7849800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:7849600-7849800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:7849600-7849800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr5:7849600-7849800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr5:7849600-7849800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
38	chr5:7849600-7849800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
39	chr5:7849600-7849800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
40	chr5:7849600-7849800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
41	chr5:7849600-7849800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
42	chr5:7849600-7849800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
43	chr5:7849600-7849800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:7849600-7849800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:7849600-7849800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
46	chr5:7849600-7849800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:7849600-7849800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:7849600-7849800	Bivalent Enhancer	Adipose Nuclei	Adipose
49	chr5:7849600-7849800	Bivalent Enhancer	Brain Substantia Nigra	brain
50	chr5:7849600-7849800	Bivalent Enhancer	Colon Smooth Muscle	Colon

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