Variant report

Variant	rs73723614
Chromosome Location	chr7:128298600-128298601
allele	A/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	POLR2A	chr7:128298570-128298976	GM12892	blood:	n/a	n/a
2	POLR2A	chr7:128298492-128298847	Hela-S3	cervix:	n/a	n/a
3	USF1	chr7:128298581-128298874	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:128298527-128298924	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:128298489-128298983	K562	blood:	n/a	n/a
6	POLR2A	chr7:128298439-128298978	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr7:128298511-128299088	GM12892	blood:	n/a	n/a
8	POLR2A	chr7:128298441-128299142	GM12892	blood:	n/a	n/a
9	POLR2A	chr7:128298558-128299017	GM12891	blood:	n/a	n/a
10	MAFK	chr7:128298525-128298776	HepG2	liver:	n/a	chr7:128298626-128298641
11	HEY1	chr7:128298550-128298940	HepG2	liver:	n/a	n/a
12	POLR2A	chr7:128298520-128298924	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:128298504-128298778	K562	blood:	n/a	n/a
14	POLR2A	chr7:128298545-128299146	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr7:128298522-128299098	K562	blood:	n/a	n/a
16	POLR2A	chr7:128298504-128298924	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr7:128298474-128299025	GM12891	blood:	n/a	n/a
18	PBX3	chr7:128298555-128298720	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:128298454-128299102	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:128298523-128298960	GM12878	blood:	n/a	n/a
21	JUND	chr7:128298569-128298907	HepG2	liver:	n/a	n/a
22	NFYB	chr7:128298590-128298716	K562	blood:	n/a	n/a
23	FOSL2	chr7:128298493-128299066	HepG2	liver:	n/a	n/a
24	POLR2A	chr7:128298552-128299003	GM12891	blood:	n/a	n/a
25	POLR2A	chr7:128298493-128298943	GM12892	blood:	n/a	n/a
26	POLR2A	chr7:128298549-128298942	A549	lung:	n/a	n/a
27	RXRA	chr7:128298568-128298912	HepG2	liver:	n/a	n/a
28	MAFK	chr7:128298567-128298777	HepG2	liver:	n/a	chr7:128298626-128298641
29	SP1	chr7:128298534-128298902	HepG2	liver:	n/a	n/a
30	POLR2A	chr7:128298546-128298973	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000229413	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10273146	0.81[EUR][1000 genomes]
rs10954208	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10954209	0.85[EUR][1000 genomes]
rs10954210	0.87[EUR][1000 genomes]
rs11763357	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12532347	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534956	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13247422	0.81[EUR][1000 genomes]
rs2003954	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2013189	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2060718	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56403867	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57185253	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58709686	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58781928	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60117311	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62481882	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62481884	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62481903	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62481943	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62483279	0.82[EUR][1000 genomes]
rs62483283	0.82[EUR][1000 genomes]
rs62483312	0.88[EUR][1000 genomes]
rs6971091	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv970938	chr7:128256300-128300276	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv971048	chr7:128298277-128300276	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs73723614	RP11-274B21.1	cis	lung	GTEx
rs73723614	CICP14	cis	Thyroid	GTEx
rs73723614	RP11-274B21.2	cis	Skin Sun Exposed Lower leg	GTEx
rs73723614	RP11-274B21.4	cis	Nerve Tibial	GTEx
rs73723614	RP11-274B21.4	cis	lung	GTEx
rs73723614	RP11-274B21.2	cis	Thyroid	GTEx

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128249600-128308400	Weak transcription	HSMM	muscle
2	chr7:128249600-128312200	Weak transcription	Psoas Muscle	Psoas
3	chr7:128249600-128319600	Weak transcription	NHLF	lung
4	chr7:128260400-128300600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:128272200-128300000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:128279800-128300000	Weak transcription	Dnd41	blood
7	chr7:128279800-128301400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr7:128282400-128301400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:128282400-128312400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr7:128282600-128300000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:128284000-128304800	Weak transcription	Primary T cells from cord blood	blood
12	chr7:128284200-128301400	Weak transcription	Fetal Lung	lung
13	chr7:128284200-128313200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:128284400-128299200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr7:128284400-128313200	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:128287400-128301400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:128289000-128301400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:128292000-128300000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:128292200-128300000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:128293000-128300000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:128293400-128300200	Weak transcription	Brain Anterior Caudate	brain
22	chr7:128293600-128301400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:128293600-128301600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:128293600-128302000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:128293600-128302200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:128293600-128312200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr7:128294000-128301000	Weak transcription	Esophagus	oesophagus
28	chr7:128294000-128313200	Weak transcription	Brain Germinal Matrix	brain
29	chr7:128294200-128300000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:128294400-128302200	Weak transcription	Aorta	Aorta
31	chr7:128294600-128301400	Weak transcription	Spleen	Spleen
32	chr7:128294600-128301800	Weak transcription	Fetal Brain Female	brain
33	chr7:128294800-128301000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:128294800-128301400	Weak transcription	Fetal Muscle Leg	muscle
35	chr7:128294800-128302200	Weak transcription	Gastric	stomach
36	chr7:128294800-128328000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:128295000-128298600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:128295000-128298600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:128295000-128298600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:128295000-128300000	Weak transcription	Fetal Thymus	thymus
41	chr7:128295000-128300000	Weak transcription	Lung	lung
42	chr7:128295000-128300800	Weak transcription	Placenta	Placenta
43	chr7:128295000-128301200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:128295000-128301400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:128295000-128301400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr7:128295000-128301400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:128295000-128301400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr7:128295000-128301600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:128295000-128304800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:128295000-128310400	Weak transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links