Variant report

Variant	rs326203
Chromosome Location	chr5:7850363-7850364
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr5:7850284-7851608	ECC-1	luminal epithelium:	n/a	chr5:7850373-7850382
2	SIN3A	chr5:7849859-7850600	H1-hESC	embryonic stem cell:	n/a	chr5:7850037-7850048
3	CTCF	chr5:7850260-7850410	A549	lung:	n/a	n/a
4	MXI1	chr5:7850155-7850432	H1-hESC	embryonic stem cell:	n/a	n/a
5	USF2	chr5:7850201-7850401	H1-hESC	embryonic stem cell:	n/a	chr5:7850357-7850373
6	ZNF143	chr5:7850020-7850511	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr5:7849670-7850378	H1-hESC	embryonic stem cell:	n/a	chr5:7849926-7849938 chr5:7850138-7850157 chr5:7850147-7850156 chr5:7850001-7850015
8	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
9	SIN3AK20	chr5:7849989-7850474	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:7850327-7850377	BE2_C	brain:	n/a
2	chr5:7850327-7850377	U87	brain:	n/a
3	chr5:7850327-7850377	HNPCEpiC	eye:	n/a
4	chr5:7850327-7850377	HepG2	liver:	n/a
5	chr5:7850327-7850377	LNCaP	prostate:	n/a
6	chr5:7850327-7850377	HIPEpiC	eye:	n/a
7	chr5:7850327-7850377	SAEC	small airway:	n/a
8	chr5:7850327-7850377	NHDF-neo	bronchial:	n/a
9	chr5:7850327-7850377	AG09309	skin:	n/a
10	chr5:7850327-7850377	NH-A	brain:	n/a
11	chr5:7850327-7850377	HMEC	breast:	n/a
12	chr5:7850327-7850377	ovcar-3	ovarian:	n/a
13	chr5:7850327-7850377	GM19239	blood:	n/a
14	chr5:7850327-7850377	Jurkat	blood:	n/a
15	chr5:7850327-7850377	GM12878	blood:	n/a
16	chr5:7850327-7850377	AG10803	skin:	n/a
17	chr5:7850327-7850377	AG04450	lung:	fetal
18	chr5:7850327-7850377	HRCEpiC	kidney:	n/a
19	chr5:7850327-7850377	PFSK-1	brain:	n/a
20	chr5:7850327-7850377	Caco-2	colon:	n/a
21	chr5:7850327-7850377	SK-N-SH	brain:	n/a
22	chr5:7850327-7850377	AG09319	gingival:	n/a
23	chr5:7850327-7850377	HL-60	blood:	n/a
24	chr5:7850327-7850377	AoSMC	blood vessel:	n/a
25	chr5:7850327-7850377	HRPEpiC	eye:	n/a
26	chr5:7850327-7850377	NT2-D1	testis:	n/a
27	chr5:7850327-7850377	ProgFib	skin:	n/a
28	chr5:7850327-7850377	HAEpiC	amniotic membrane:	n/a
29	chr5:7850327-7850377	NHBE	bronchial:	n/a
30	chr5:7850327-7850377	GM12891	blood:	n/a
31	chr5:7850327-7850377	HCT-116	colon:	n/a
32	chr5:7850327-7850377	AG04449	skin:	fetal
33	chr5:7850327-7850377	HEK293	kidney:	embryo
34	chr5:7850327-7850377	PANC-1	pancreas:	n/a
35	chr5:7850327-7850377	HCM	heart:	n/a
36	chr5:7850327-7850377	HCF	heart:	n/a
37	chr5:7850327-7850377	RPTEC	kidney:	n/a
38	chr5:7850327-7850377	H1-hESC	embryonic stem cell:	embryo
39	chr5:7850327-7850377	HRE	kidney:	n/a
40	chr5:7850327-7850377	T-47D	breast:	n/a
41	chr5:7850327-7850377	HEEpiC	esophagus:	n/a
42	chr5:7850327-7850377	A549	lung:	n/a
43	chr5:7850327-7850377	HCPEpiC	choroid plexus:	n/a
44	chr5:7850327-7850377	K562	blood:	n/a
45	chr5:7850327-7850377	BJ	skin:	n/a
46	chr5:7850327-7850377	SK-N-MC	brain:	n/a
47	chr5:7850327-7850377	HPAEpiC	pulmonary alveolar:	n/a
48	chr5:7850327-7850377	ECC-1	luminal epithelium:	n/a
49	chr5:7850327-7850377	MCF10A-Er-Src	breast:	n/a
50	chr5:7850327-7850377	HUVEC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:7849253..7853514-chr5:7868734..7871211,5	MCF-7	breast:
2	chr5:7843515..7845259-chr5:7848179..7851160,2	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: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13172640	0.89[EUR][1000 genomes]
rs13190195	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs161874	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs326201	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62342524	0.89[EUR][1000 genomes]

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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7849000-7851000	Weak transcription	HSMM	muscle
2	chr5:7849400-7850400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:7849600-7850400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:7849600-7850400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
5	chr5:7849600-7850400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
6	chr5:7849600-7850400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
7	chr5:7849600-7851400	Active TSS	Brain Angular Gyrus	brain
8	chr5:7849600-7851800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr5:7849600-7851800	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr5:7849800-7850400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:7849800-7850400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
12	chr5:7849800-7850400	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:7849800-7850400	Bivalent/Poised TSS	Primary T killer memory cells from peripheral blood	blood
14	chr5:7849800-7850400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:7849800-7850400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
16	chr5:7849800-7850400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
17	chr5:7849800-7850400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
18	chr5:7849800-7850400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
19	chr5:7849800-7850400	Enhancers	Fetal Brain Male	brain
20	chr5:7849800-7850400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
21	chr5:7849800-7850400	Enhancers	Gastric	stomach
22	chr5:7849800-7850400	Flanking Active TSS	Right Ventricle	heart
23	chr5:7849800-7850400	Bivalent Enhancer	HMEC	breast
24	chr5:7849800-7850400	Bivalent Enhancer	HUVEC	blood vessel
25	chr5:7849800-7850600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
26	chr5:7849800-7850600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
27	chr5:7849800-7850600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
28	chr5:7849800-7850600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr5:7849800-7850600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:7849800-7850600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:7849800-7850600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
32	chr5:7849800-7850600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
33	chr5:7849800-7850600	Bivalent Enhancer	Stomach Mucosa	stomach
34	chr5:7849800-7850800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
35	chr5:7849800-7851000	Enhancers	Lung	lung
36	chr5:7849800-7851200	Active TSS	Ovary	ovary
37	chr5:7849800-7851200	Active TSS	Right Atrium	heart
38	chr5:7849800-7851400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr5:7849800-7851400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:7849800-7851400	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr5:7849800-7851400	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr5:7849800-7851400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr5:7849800-7851400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr5:7849800-7851600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:7849800-7851600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr5:7849800-7851600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:7849800-7851600	Bivalent/Poised TSS	A549	lung
48	chr5:7849800-7851800	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr5:7849800-7852000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:7849800-7852000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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