Variant report

Variant	rs161874
Chromosome Location	chr5:7851181-7851182
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:80)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:80 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr5:7850883-7851699	H1-hESC	embryonic stem cell:	n/a	chr5:7851222-7851231
2	ZBTB7A	chr5:7850284-7851608	ECC-1	luminal epithelium:	n/a	chr5:7850373-7850382
3	ZNF263	chr5:7850943-7852209	HEK293-T-REx	kidney:	n/a	chr5:7851365-7851386
4	CTCF	chr5:7851120-7851270	A549	lung:	n/a	n/a
5	TAF1	chr5:7851056-7851342	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr5:7851077-7851479	H1-hESC	embryonic stem cell:	n/a	n/a
7	MYC	chr5:7851162-7851293	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr5:7850947-7851204	MCF-7	breast:	n/a	n/a
9	POLR2A	chr5:7851020-7851447	H1-neurons	neurons:	n/a	n/a
10	RAD21	chr5:7851132-7851418	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr5:7851180-7851330	HAc	cerebellar:	n/a	n/a
12	JUND	chr5:7851105-7851412	H1-hESC	embryonic stem cell:	n/a	chr5:7851175-7851184
13	ZBTB7A	chr5:7850762-7851640	ECC-1	luminal epithelium:	n/a	n/a
14	CTCF	chr5:7851160-7851310	HRE	kidney:	n/a	n/a
15	MAX	chr5:7850818-7851708	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr5:7851052-7852091	HepG2	liver:	n/a	n/a
17	CTCF	chr5:7851123-7851433	H1-hESC	embryonic stem cell:	n/a	n/a
18	TEAD4	chr5:7851096-7851508	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr5:7851180-7851330	RPTEC	kidney:	n/a	n/a
20	JUND	chr5:7851121-7851375	H1-hESC	embryonic stem cell:	n/a	chr5:7851175-7851184
21	CTCF	chr5:7851140-7851290	GM12867	blood:	n/a	n/a
22	CTCF	chr5:7851120-7851270	HVMF	connective:	n/a	n/a
23	SIN3AK20	chr5:7851021-7851339	H1-hESC	embryonic stem cell:	n/a	n/a
24	TBP	chr5:7850945-7851365	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr5:7850923-7851365	MCF-7	breast:	n/a	n/a
26	CTCF	chr5:7851160-7851310	HCM	heart:	n/a	n/a
27	POLR2A	chr5:7850838-7851562	H1-hESC	embryonic stem cell:	n/a	n/a
28	EP300	chr5:7851103-7851344	HepG2	liver:	n/a	n/a
29	CTCF	chr5:7851160-7851310	NHEK	skin:	n/a	n/a
30	CTCF	chr5:7851160-7851310	SAEC	small airway:	n/a	n/a
31	MXI1	chr5:7851004-7851457	H1-hESC	embryonic stem cell:	n/a	n/a
32	YY1	chr5:7851069-7851317	H1-hESC	embryonic stem cell:	n/a	chr5:7851150-7851159
33	TEAD4	chr5:7851058-7851459	H1-hESC	embryonic stem cell:	n/a	n/a
34	EP300	chr5:7851081-7851527	H1-hESC	embryonic stem cell:	n/a	n/a
35	HDAC2	chr5:7851116-7851381	H1-hESC	embryonic stem cell:	n/a	n/a
36	TAF1	chr5:7850804-7851411	H1-hESC	embryonic stem cell:	n/a	n/a
37	MXI1	chr5:7851008-7851490	HepG2	liver:	n/a	n/a
38	MAX	chr5:7851102-7851424	A549	lung:	n/a	n/a
39	SP1	chr5:7851057-7851548	H1-hESC	embryonic stem cell:	n/a	chr5:7851327-7851338
40	CTCF	chr5:7851053-7851418	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr5:7851100-7851646	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr5:7851180-7851330	AoAF	blood vessel:	n/a	n/a
43	CTCF	chr5:7851174-7851362	HepG2	liver:	n/a	n/a
44	MAX	chr5:7850906-7851850	MCF-7	breast:	n/a	n/a
45	CTCF	chr5:7851180-7851330	HFF-Myc	foreskin:	n/a	n/a
46	CTCF	chr5:7851180-7851330	GM12871	blood:	n/a	n/a
47	CTCF	chr5:7851105-7851446	IMR90	lung:	n/a	n/a
48	POLR2A	chr5:7850931-7851199	H1-hESC	embryonic stem cell:	n/a	n/a
49	RAD21	chr5:7851150-7851487	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr5:7851074-7851203	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:7850851..7852971-chr5:7863121..7865145,2	MCF-7	breast:
2	chr5:7849253..7853514-chr5:7868734..7871211,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTRR-7	chr5:7850990-7851698	NONHSAT100256

No data

Variant related genes	Relation type
MTRR	TF binding region
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	0.81[EUR][1000 genomes]
rs13190195	0.82[EUR][1000 genomes]
rs326201	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs326203	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62342524	0.81[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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7849600-7851400	Active TSS	Brain Angular Gyrus	brain
2	chr5:7849600-7851800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr5:7849600-7851800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr5:7849800-7851200	Active TSS	Ovary	ovary
5	chr5:7849800-7851200	Active TSS	Right Atrium	heart
6	chr5:7849800-7851400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr5:7849800-7851400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:7849800-7851400	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr5:7849800-7851400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr5:7849800-7851400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:7849800-7851400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:7849800-7851600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:7849800-7851600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:7849800-7851600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:7849800-7851600	Bivalent/Poised TSS	A549	lung
16	chr5:7849800-7851800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr5:7849800-7852000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:7849800-7852000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:7850000-7851200	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr5:7850000-7851200	Active TSS	Aorta	Aorta
21	chr5:7850000-7851400	Active TSS	Esophagus	oesophagus
22	chr5:7850000-7851400	Active TSS	HepG2	liver
23	chr5:7850000-7851600	Active TSS	H1 Cell Line	embryonic stem cell
24	chr5:7850000-7851600	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr5:7850000-7851600	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr5:7850000-7851600	Active TSS	Brain Cingulate Gyrus	brain
27	chr5:7850000-7851600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:7850000-7851600	Active TSS	Brain Substantia Nigra	brain
29	chr5:7850000-7851600	Active TSS	Fetal Brain Female	brain
30	chr5:7850000-7851800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:7850000-7851800	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr5:7850000-7852200	Active TSS	Brain Anterior Caudate	brain
33	chr5:7850000-7852200	Active TSS	Fetal Kidney	kidney
34	chr5:7850000-7852400	Enhancers	Spleen	Spleen
35	chr5:7850200-7851200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr5:7850200-7851200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr5:7850200-7851200	Active TSS	Brain Hippocampus Middle	brain
38	chr5:7850200-7851400	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr5:7850200-7851400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:7850200-7851400	Weak transcription	Fetal Heart	heart
41	chr5:7850200-7851400	Bivalent/Poised TSS	Fetal Stomach	stomach
42	chr5:7850200-7851400	Active TSS	Placenta Amnion	Placenta Amnion
43	chr5:7850200-7851400	Bivalent/Poised TSS	Thymus	Thymus
44	chr5:7850200-7851600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:7850200-7851600	Active TSS	Primary T cells from cord blood	blood
46	chr5:7850200-7851600	Active TSS	Fetal Intestine Small	intestine
47	chr5:7850200-7851600	Active TSS	Small Intestine	intestine
48	chr5:7850200-7851600	Bivalent/Poised TSS	Osteobl	bone
49	chr5:7850200-7851800	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr5:7850400-7851200	Active TSS	Primary hematopoietic stem cells	blood

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