Variant report

Variant	rs73802340
Chromosome Location	chr5:167913800-167913801
allele	C/T
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	IRF1	chr5:167913170-167914446	K562	blood:	n/a	chr5:167913621-167913635 chr5:167914073-167914085 chr5:167914070-167914084 chr5:167914074-167914085 chr5:167913458-167913478 chr5:167914074-167914084 chr5:167914073-167914085
2	TCF12	chr5:167912939-167914043	A549	lung:	n/a	chr5:167913815-167913823
3	SIN3AK20	chr5:167912977-167914141	MCF-7	breast:	n/a	n/a
4	CTCF	chr5:167912679-167913839	A549	lung:	n/a	chr5:167913375-167913388
5	CHD2	chr5:167913186-167913881	K562	blood:	n/a	n/a
6	POLR2A	chr5:167913115-167913867	HUVEC	blood vessel:	n/a	n/a
7	JUND	chr5:167913148-167913817	A549	lung:	n/a	chr5:167913597-167913608
8	POLR2A	chr5:167913176-167913875	Gliobla	brain:	n/a	n/a
9	GABPA	chr5:167913116-167913910	Hela-S3	cervix:	n/a	chr5:167913462-167913469 chr5:167913436-167913443
10	MAX	chr5:167913153-167914154	Hela-S3	cervix:	n/a	n/a
11	GATA3	chr5:167913094-167913969	A549	lung:	n/a	n/a
12	POLR2A	chr5:167913164-167914003	GM12891	blood:	n/a	n/a
13	POLR2A	chr5:167913176-167913895	A549	lung:	n/a	n/a
14	GABPA	chr5:167913096-167913803	K562	blood:	n/a	chr5:167913462-167913469 chr5:167913436-167913443
15	MAZ	chr5:167912773-167914183	IMR90	lung:	n/a	n/a
16	POLR2A	chr5:167913093-167914843	GM18505	blood:	n/a	n/a
17	HCFC1	chr5:167912784-167914120	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr5:167913077-167913889	GM12878	blood:	n/a	n/a
19	POLR2A	chr5:167913133-167913859	HepG2	liver:	n/a	n/a
20	NFIC	chr5:167913073-167914073	GM12878	blood:	n/a	n/a
21	GABPA	chr5:167913042-167914020	MCF-7	breast:	n/a	chr5:167913462-167913469 chr5:167913436-167913443
22	POLR2A	chr5:167913274-167914091	K562	blood:	n/a	n/a
23	BCL3	chr5:167912976-167914071	A549	lung:	n/a	n/a
24	ZKSCAN1	chr5:167913066-167913886	Hela-S3	cervix:	n/a	n/a
25	MYC	chr5:167913169-167913868	K562	blood:	n/a	n/a
26	RUNX3	chr5:167913159-167913892	GM12878	blood:	n/a	n/a
27	POLR2A	chr5:167913115-167914810	GM18951	blood:	n/a	n/a
28	USF2	chr5:167913733-167913922	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr5:167913108-167913870	GM12892	blood:	n/a	n/a
30	GABPA	chr5:167913150-167913828	GM12878	blood:	n/a	chr5:167913462-167913469 chr5:167913436-167913443
31	MAX	chr5:167913122-167913925	A549	lung:	n/a	n/a
32	SMC3	chr5:167913074-167913940	Hela-S3	cervix:	n/a	chr5:167913378-167913388
33	REST	chr5:167913079-167913853	HL-60	blood:	n/a	chr5:167913385-167913403
34	RAD21	chr5:167912855-167914231	SK-N-SH	brain:	n/a	chr5:167913378-167913388 chr5:167913376-167913389
35	POLR2A	chr5:167913112-167914108	GM15510	blood:	n/a	n/a
36	YY1	chr5:167913151-167913903	GM12878	blood:	n/a	n/a
37	TBP	chr5:167913113-167913853	K562	blood:	n/a	chr5:167913653-167913664
38	POLR2A	chr5:167913085-167913917	GM19099	blood:	n/a	n/a
39	POLR2A	chr5:167913094-167914090	PFSK-1	brain:	n/a	n/a
40	POLR2A	chr5:167913138-167913944	MCF-7	breast:	n/a	n/a
41	POLR2A	chr5:167913136-167914213	GM12892	blood:	n/a	n/a
42	BCL3	chr5:167912757-167914058	A549	lung:	n/a	n/a
43	GABPA	chr5:167913044-167913971	HL-60	blood:	n/a	chr5:167913462-167913469 chr5:167913436-167913443
44	STAT5A	chr5:167913100-167913971	GM12878	blood:	n/a	chr5:167913446-167913458 chr5:167913766-167913778
45	MAX	chr5:167913078-167913962	A549	lung:	n/a	n/a
46	SIN3AK20	chr5:167913174-167913913	MCF-7	breast:	n/a	n/a
47	ELF1	chr5:167913163-167913810	HepG2	liver:	n/a	chr5:167913458-167913471 chr5:167913438-167913451 chr5:167913440-167913449 chr5:167913439-167913448
48	GABPA	chr5:167912970-167914134	SK-N-SH	brain:	n/a	chr5:167913462-167913469 chr5:167913436-167913443
49	MAZ	chr5:167913177-167913804	Hela-S3	cervix:	n/a	n/a
50	HEY1	chr5:167913108-167913831	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:167913752-167913802	PANC-1	pancreas:	n/a
2	chr5:167913752-167913802	HNPCEpiC	eye:	n/a
3	chr5:167913752-167913802	HCF	heart:	n/a
4	chr5:167913752-167913802	ProgFib	skin:	n/a
5	chr5:167913752-167913802	SK-N-MC	brain:	n/a
6	chr5:167913752-167913802	AG04449	skin:	fetal
7	chr5:167913752-167913802	NHDF-neo	bronchial:	n/a
8	chr5:167913752-167913802	CMK	blood:	n/a
9	chr5:167913752-167913802	SKMC	muscle:	n/a
10	chr5:167913752-167913802	Caco-2	colon:	n/a
11	chr5:167913752-167913802	HRPEpiC	eye:	n/a
12	chr5:167913752-167913802	HCPEpiC	choroid plexus:	n/a
13	chr5:167913752-167913802	LNCaP	prostate:	n/a
14	chr5:167913752-167913802	NHBE	bronchial:	n/a
15	chr5:167913752-167913802	PrEC	prostate:	n/a
16	chr5:167913752-167913802	HMEC	breast:	n/a
17	chr5:167913752-167913802	HL-60	blood:	n/a
18	chr5:167913752-167913802	AoSMC	blood vessel:	n/a
19	chr5:167913752-167913802	PFSK-1	brain:	n/a
20	chr5:167913752-167913802	MCF-7	breast:	n/a
21	chr5:167913752-167913802	K562	blood:	n/a
22	chr5:167913752-167913802	HepG2	liver:	n/a
23	chr5:167913752-167913802	Jurkat	blood:	n/a
24	chr5:167913752-167913802	GM12892	blood:	n/a
25	chr5:167913752-167913802	AG09309	skin:	n/a
26	chr5:167913752-167913802	GM12891	blood:	n/a
27	chr5:167913752-167913802	AG10803	skin:	n/a
28	chr5:167913752-167913802	BE2_C	brain:	n/a
29	chr5:167913752-167913802	RPTEC	kidney:	n/a
30	chr5:167913752-167913802	SAEC	small airway:	n/a
31	chr5:167913752-167913802	NT2-D1	testis:	n/a
32	chr5:167913752-167913802	MCF10A-Er-Src	breast:	n/a
33	chr5:167913752-167913802	U87	brain:	n/a
34	chr5:167913752-167913802	GM12878	blood:	n/a
35	chr5:167913752-167913802	HUVEC	blood vessel:	n/a
36	chr5:167913752-167913802	T-47D	breast:	n/a
37	chr5:167913752-167913802	SK-N-SH	brain:	n/a
38	chr5:167913752-167913802	SK-N-SH_RA	brain:	n/a
39	chr5:167913752-167913802	ovcar-3	ovarian:	n/a
40	chr5:167913752-167913802	NH-A	brain:	n/a
41	chr5:167913752-167913802	HEEpiC	esophagus:	n/a
42	chr5:167913752-167913802	HPAEpiC	pulmonary alveolar:	n/a
43	chr5:167913752-167913802	HCM	heart:	n/a
44	chr5:167913752-167913802	HIPEpiC	eye:	n/a
45	chr5:167913752-167913802	Hepatocyte	liver:	n/a
46	chr5:167913752-167913802	H1-hESC	embryonic stem cell:	embryo
47	chr5:167913752-167913802	GM19239	blood:	n/a
48	chr5:167913752-167913802	AG04450	lung:	fetal
49	chr5:167913752-167913802	HCT-116	colon:	n/a
50	chr5:167913752-167913802	HAEpiC	amniotic membrane:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:167912878..167915403-chr5:167922704..167925554,3	MCF-7	breast:
2	chr5:167912350..167913873-chr5:168006131..168008929,2	MCF-7	breast:
3	chr2:160568206..160569002-chr5:167913206..167913906,2	Hela-S3	cervix:
4	chr5:167893756..167895862-chr5:167912088..167914679,2	MCF-7	breast:
5	chr5:167913550..167916370-chr5:168003206..168007551,4	MCF-7	breast:

Variant related genes	Relation type
RARS	TF binding region
RARS	CpG island
ENSG00000226266	Chromatin interaction
ENSG00000136536	Chromatin interaction
ENSG00000120137	Chromatin interaction
ENSG00000113645	Chromatin interaction
ENSG00000113643	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10035471	1.00[AMR][1000 genomes]
rs10037118	1.00[AMR][1000 genomes]
rs10037130	1.00[AMR][1000 genomes]
rs10038390	1.00[AMR][1000 genomes]
rs10038391	1.00[AMR][1000 genomes]
rs10040943	1.00[AMR][1000 genomes]
rs10042188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10042576	1.00[AMR][1000 genomes]
rs10054916	1.00[AMR][1000 genomes]
rs10055507	1.00[AMR][1000 genomes]
rs10056428	1.00[AMR][1000 genomes]
rs10059019	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10063775	1.00[AMR][1000 genomes]
rs1006513	1.00[AMR][1000 genomes]
rs10068535	1.00[AMR][1000 genomes]
rs10070122	1.00[AMR][1000 genomes]
rs10075191	1.00[AMR][1000 genomes]
rs1108517	1.00[AMR][1000 genomes]
rs12109088	1.00[AMR][1000 genomes]
rs13354276	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13359254	1.00[AMR][1000 genomes]
rs13361044	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13361202	1.00[AMR][1000 genomes]
rs17070328	1.00[AMR][1000 genomes]
rs1808372	1.00[AMR][1000 genomes]
rs2010076	1.00[AMR][1000 genomes]
rs28369637	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28450630	1.00[AMR][1000 genomes]
rs28702465	1.00[AMR][1000 genomes]
rs55689120	1.00[AMR][1000 genomes]
rs55736269	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61067865	1.00[AMR][1000 genomes]
rs61456455	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6886460	1.00[AMR][1000 genomes]
rs73801875	1.00[AMR][1000 genomes]
rs73801876	1.00[AMR][1000 genomes]
rs73802326	1.00[AMR][1000 genomes]
rs73802328	1.00[AMR][1000 genomes]
rs73802348	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534607	chr5:167661667-168454396	Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv949154	chr5:167691208-168323234	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1023985	chr5:167756193-168285807	Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv537941	chr5:167756193-168285807	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv970006	chr5:167870237-167924444	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
6	esv1806765	chr5:167913510-167936019	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167912600-167914400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:167912800-167914400	Active TSS	Primary T cells from cord blood	blood
3	chr5:167913000-167913800	Active TSS	Primary hematopoietic stem cells	blood
4	chr5:167913000-167914000	Active TSS	Fetal Brain Male	brain
5	chr5:167913000-167914200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:167913000-167914200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:167913000-167914200	Active TSS	Brain Angular Gyrus	brain
8	chr5:167913000-167914200	Active TSS	Fetal Thymus	thymus
9	chr5:167913000-167914200	Active TSS	Stomach Smooth Muscle	stomach
10	chr5:167913000-167914200	Active TSS	Thymus	Thymus
11	chr5:167913000-167914400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:167913000-167914400	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr5:167913000-167914400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:167913000-167914400	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr5:167913000-167914400	Active TSS	Brain Anterior Caudate	brain
16	chr5:167913000-167914400	Active TSS	Brain Hippocampus Middle	brain
17	chr5:167913000-167914400	Active TSS	Colon Smooth Muscle	Colon
18	chr5:167913000-167914400	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr5:167913000-167914400	Active TSS	Fetal Brain Female	brain
20	chr5:167913000-167914400	Active TSS	K562	blood
21	chr5:167913000-167914400	Active TSS	Osteobl	bone
22	chr5:167913000-167914600	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr5:167913000-167914600	Active TSS	Brain Germinal Matrix	brain
24	chr5:167913000-167914600	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr5:167913000-167914600	Active TSS	Psoas Muscle	Psoas
26	chr5:167913000-167914600	Active TSS	NHDF-Ad	bronchial
27	chr5:167913000-167914800	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr5:167913000-167914800	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr5:167913000-167914800	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr5:167913200-167914000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
31	chr5:167913200-167914000	Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr5:167913200-167914000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr5:167913200-167914200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:167913200-167914200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:167913200-167914200	Active TSS	Brain Cingulate Gyrus	brain
36	chr5:167913200-167914200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr5:167913200-167914200	Active TSS	Right Ventricle	heart
38	chr5:167913200-167914200	Active TSS	Small Intestine	intestine
39	chr5:167913200-167914200	Active TSS	Spleen	Spleen
40	chr5:167913200-167914400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:167913200-167914400	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr5:167913200-167914400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:167913200-167914400	Active TSS	Primary B cells from cord blood	blood
44	chr5:167913200-167914400	Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr5:167913200-167914400	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr5:167913200-167914400	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr5:167913200-167914400	Active TSS	Muscle Satellite Cultured Cells	--
48	chr5:167913200-167914400	Active TSS	Fetal Kidney	kidney
49	chr5:167913200-167914400	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr5:167913200-167914400	Active TSS	Fetal Lung	lung

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