Variant report

Variant	rs73842633
Chromosome Location	chr4:120375464-120375465
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:197)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:197 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr4:120375214-120376527	H1-hESC	embryonic stem cell:	n/a	n/a
2	PAX5	chr4:120375158-120376388	GM12878	blood:	n/a	n/a
3	CTCF	chr4:120375460-120375610	HBMEC	blood vessel:	n/a	chr4:120375499-120375512
4	CTCF	chr4:120375440-120375590	BJ	skin:	n/a	chr4:120375499-120375512
5	MAX	chr4:120375348-120376380	K562	blood:	n/a	n/a
6	MXI1	chr4:120375348-120376327	SK-N-SH	brain:	n/a	n/a
7	MAX	chr4:120375417-120376065	Hela-S3	cervix:	n/a	n/a
8	TAF1	chr4:120374872-120376704	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF1	chr4:120375410-120376174	K562	blood:	n/a	n/a
10	TAF1	chr4:120375441-120376435	GM12892	blood:	n/a	n/a
11	CEBPB	chr4:120375425-120375563	HepG2	liver:	n/a	n/a
12	SP1	chr4:120375357-120376214	A549	lung:	n/a	chr4:120375478-120375492
13	CTCF	chr4:120375460-120375610	BJ	skin:	n/a	chr4:120375499-120375512
14	CTCF	chr4:120375440-120375590	AG04449	skin:	n/a	chr4:120375499-120375512
15	HEY1	chr4:120374415-120376618	K562	blood:	n/a	n/a
16	POLR2A	chr4:120375405-120376315	PBDE	blood:	n/a	n/a
17	POLR2A	chr4:120375321-120376384	U87	brain:	n/a	n/a
18	TAF1	chr4:120375455-120376423	HepG2	liver:	n/a	n/a
19	TAF1	chr4:120375136-120376439	HepG2	liver:	n/a	n/a
20	POLR2A	chr4:120375355-120376253	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr4:120375450-120376198	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr4:120375132-120376450	A549	lung:	n/a	n/a
23	SP1	chr4:120375392-120376184	HepG2	liver:	n/a	chr4:120375478-120375492
24	POLR2A	chr4:120375456-120376164	K562	blood:	n/a	n/a
25	POLR2A	chr4:120375452-120376260	GM12892	blood:	n/a	n/a
26	POLR2A	chr4:120375458-120376242	GM12878	blood:	n/a	n/a
27	POLR2A	chr4:120375422-120376430	Gliobla	brain:	n/a	n/a
28	POLR2A	chr4:120375348-120376108	K562	blood:	n/a	n/a
29	MYC	chr4:120375413-120376193	K562	blood:	n/a	n/a
30	PML	chr4:120375342-120376201	K562	blood:	n/a	n/a
31	CTCF	chr4:120375360-120375510	HAc	cerebellar:	n/a	n/a
32	HEY1	chr4:120375391-120375855	HepG2	liver:	n/a	n/a
33	TAF1	chr4:120375388-120376348	A549	lung:	n/a	n/a
34	POLR2A	chr4:120375363-120376396	NB4	blood:	n/a	n/a
35	POLR2A	chr4:120375437-120376261	HepG2	liver:	n/a	n/a
36	POLR2A	chr4:120374350-120376496	GM12891	blood:	n/a	n/a
37	YY1	chr4:120375283-120376010	A549	lung:	n/a	n/a
38	E2F4	chr4:120375416-120376228	K562	blood:	n/a	n/a
39	SP1	chr4:120375374-120376095	GM12878	blood:	n/a	chr4:120375478-120375492
40	TAF1	chr4:120375436-120375700	Hela-S3	cervix:	n/a	n/a
41	IRF4	chr4:120375328-120376330	GM12878	blood:	n/a	n/a
42	YY1	chr4:120375372-120376109	K562	blood:	n/a	n/a
43	REST	chr4:120375309-120376170	H1-neurons	neurons:	n/a	chr4:120375504-120375514 chr4:120375734-120375744
44	POLR2A	chr4:120375357-120376402	GM18505	blood:	n/a	n/a
45	POLR2A	chr4:120375462-120376305	HepG2	liver:	n/a	n/a
46	POLR2A	chr4:120375398-120376327	GM18526	blood:	n/a	n/a
47	CTCF	chr4:120375440-120375590	HUVEC	blood vessel:	n/a	chr4:120375499-120375512
48	SIX5	chr4:120375156-120375539	K562	blood:	n/a	n/a
49	POLR2A	chr4:120375193-120376436	U87	brain:	n/a	n/a
50	USF1	chr4:120375448-120375948	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	chr4:120132920..120134685-chr4:120374052..120375829,3	K562	blood:
2	chr4:120132920..120134685-chr4:120374052..120375829,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDE5A-3	chr4:120375401-120375783	NONHSAT098065

No data

Variant related genes	Relation type
ENSG00000245958	TF binding region
ENSG00000248280	TF binding region
ENSG00000250950	TF binding region
ENSG00000178636	Chromatin interaction
ENSG00000145390	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10004144	0.83[EUR][1000 genomes]
rs10006525	0.80[EUR][1000 genomes]
rs10006706	0.80[EUR][1000 genomes]
rs10006793	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10008459	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10009450	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10017335	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10017389	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10018726	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10020027	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10026516	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10026736	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10026952	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10031483	0.80[EUR][1000 genomes]
rs10031665	0.80[EUR][1000 genomes]
rs10032151	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10032158	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10034623	0.80[EUR][1000 genomes]
rs10518328	0.80[EUR][1000 genomes]
rs11098524	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11098525	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11098526	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11098527	0.80[EUR][1000 genomes]
rs11934314	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11934328	0.84[AFR][1000 genomes]
rs11934940	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11943877	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12499324	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12502423	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12502909	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12505953	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12510138	0.80[EUR][1000 genomes]
rs13107475	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13145352	0.80[EUR][1000 genomes]
rs1480931	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17006190	0.80[EUR][1000 genomes]
rs17046116	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17046118	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1809406	0.82[EUR][1000 genomes]
rs2306455	0.80[EUR][1000 genomes]
rs2389803	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2389809	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28374462	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28394590	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28408407	0.86[EUR][1000 genomes]
rs28441656	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28444327	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28461559	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28479042	0.85[EUR][1000 genomes]
rs28499576	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28529639	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28559989	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28567426	0.84[AMR][1000 genomes]
rs28571712	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28587142	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28587175	0.83[AMR][1000 genomes]
rs28626372	0.83[AMR][1000 genomes]
rs28632018	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28685688	0.80[EUR][1000 genomes]
rs2892848	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34004415	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34858317	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35063680	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3733519	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs3733520	0.80[EUR][1000 genomes]
rs3733523	0.80[EUR][1000 genomes]
rs3733524	0.80[EUR][1000 genomes]
rs4001190	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4577559	0.80[EUR][1000 genomes]
rs56270433	0.80[EUR][1000 genomes]
rs66506550	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6822679	0.80[EUR][1000 genomes]
rs6837828	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6838814	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6842762	0.80[EUR][1000 genomes]
rs6848389	0.80[EUR][1000 genomes]
rs6849171	0.80[EUR][1000 genomes]
rs6849561	0.80[EUR][1000 genomes]
rs71614438	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71614443	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71614444	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71614448	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71614449	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71629403	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71629404	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7436506	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7654529	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7654546	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7654587	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7656252	0.80[EUR][1000 genomes]
rs7659336	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7659501	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7659551	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7664458	0.81[EUR][1000 genomes]
rs7680704	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7681214	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7681978	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7687843	0.80[EUR][1000 genomes]
rs7688613	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9993199	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9994730	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9994810	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9998585	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription 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	58 gene(s)	inside rSNPs	diseases
3	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv879841	chr4:120244085-120388406	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv879842	chr4:120244085-120424087	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv427694	chr4:120250511-120501728	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	esv2538163	chr4:120252854-120388678	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv966315	chr4:120323446-120375667	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv879843	chr4:120326323-120502461	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv879844	chr4:120341296-120449810	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv879846	chr4:120341296-120491714	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv879845	chr4:120341296-120502461	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv879847	chr4:120371729-120450159	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv966373	chr4:120373841-120375667	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs73842633	RP11-384K6.6	cis	Whole Blood	GTEx
rs73842633	RP11-33B1.1	cis	Esophagus Mucosa	GTEx
rs73842633	RP11-33B1.1	cis	Whole Blood	GTEx
rs73842633	RP11-33B1.1	cis	lung	GTEx
rs73842633	RP11-33B1.4	cis	Whole Blood	GTEx
rs73842633	RP11-33B1.1	cis	Heart Left Ventricle	GTEx
rs73842633	RP11-33B1.1	cis	Stomach	GTEx
rs73842633	RP11-33B1.1	cis	Thyroid	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120354800-120375600	Weak transcription	Spleen	Spleen
2	chr4:120374800-120377000	Active TSS	Dnd41	blood
3	chr4:120374800-120377400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:120374800-120377400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:120375000-120377000	Active TSS	Placenta	Placenta
6	chr4:120375000-120377200	Active TSS	A549	lung
7	chr4:120375000-120377400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:120375000-120377400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:120375000-120377400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:120375000-120377400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:120375200-120375600	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr4:120375200-120375600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr4:120375200-120375600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:120375200-120375600	Flanking Active TSS	Fetal Stomach	stomach
15	chr4:120375200-120376400	Active TSS	Primary B cells from cord blood	blood
16	chr4:120375200-120376400	Active TSS	Fetal Lung	lung
17	chr4:120375200-120376600	Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr4:120375200-120376600	Active TSS	Brain Cingulate Gyrus	brain
19	chr4:120375200-120376600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:120375200-120376600	Active TSS	Psoas Muscle	Psoas
21	chr4:120375200-120376800	Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr4:120375200-120376800	Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr4:120375200-120376800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:120375200-120376800	Active TSS	Fetal Muscle Leg	muscle
25	chr4:120375200-120377000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:120375200-120377000	Active TSS	Primary T cells from cord blood	blood
27	chr4:120375200-120377000	Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr4:120375200-120377000	Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr4:120375200-120377000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:120375200-120377000	Active TSS	Liver	Liver
31	chr4:120375200-120377000	Active TSS	Brain Hippocampus Middle	brain
32	chr4:120375200-120377000	Active TSS	Colon Smooth Muscle	Colon
33	chr4:120375200-120377000	Active TSS	Duodenum Mucosa	Duodenum
34	chr4:120375200-120377000	Active TSS	Fetal Muscle Trunk	muscle
35	chr4:120375200-120377000	Active TSS	Pancreas	Pancrea
36	chr4:120375200-120377000	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr4:120375200-120377000	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr4:120375200-120377000	Active TSS	Monocytes-CD14+_RO01746	blood
39	chr4:120375200-120377200	Active TSS	H9 Cell Line	embryonic stem cell
40	chr4:120375200-120377200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:120375200-120377200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:120375200-120377200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr4:120375200-120377200	Active TSS	Brain Angular Gyrus	brain
44	chr4:120375200-120377200	Active TSS	Brain Anterior Caudate	brain
45	chr4:120375200-120377200	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr4:120375200-120377200	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr4:120375200-120377200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr4:120375200-120377200	Active TSS	Fetal Intestine Small	intestine
49	chr4:120375200-120377200	Active TSS	Right Atrium	heart
50	chr4:120375200-120377200	Active TSS	Right Ventricle	heart

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