Variant report

Variant	rs7185352
Chromosome Location	chr16:75300248-75300249
allele	C/G
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	MAX	chr16:75299781-75300307	ECC-1	luminal epithelium:	n/a	n/a
2	YY1	chr16:75299339-75300293	K562	blood:	n/a	chr16:75299459-75299467 chr16:75299651-75299665
3	POLR2A	chr16:75299603-75300316	K562	blood:	n/a	n/a
4	CTCF	chr16:75300100-75300250	GM12867	blood:	n/a	n/a
5	ELF1	chr16:75299673-75300417	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:75299630-75300250	HCT-116	colon:	n/a	n/a
7	PML	chr16:75299759-75300341	MCF-7	breast:	n/a	n/a
8	POLR2A	chr16:75299637-75300302	GM19099	blood:	n/a	n/a
9	NRF1	chr16:75299526-75300265	SK-N-SH	brain:	n/a	chr16:75299654-75299663 chr16:75299898-75299909
10	NFIC	chr16:75299692-75300269	HepG2	liver:	n/a	n/a
11	POLR2A	chr16:75300023-75300304	GM12878	blood:	n/a	n/a
12	POLR2A	chr16:75299585-75300256	A549	lung:	n/a	n/a
13	MTA3	chr16:75299898-75300750	GM12878	blood:	n/a	n/a
14	POLR2A	chr16:75299554-75300415	PFSK-1	brain:	n/a	n/a
15	NR2F2	chr16:75299710-75300558	MCF-7	breast:	n/a	n/a
16	RCOR1	chr16:75299812-75300318	HepG2	liver:	n/a	n/a
17	HEY1	chr16:75299563-75300337	HepG2	liver:	n/a	n/a
18	BHLHE40	chr16:75299784-75300647	GM12878	blood:	n/a	chr16:75299884-75299900 chr16:75300514-75300523 chr16:75300509-75300530
19	HCFC1	chr16:75299332-75300587	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr16:75299630-75300307	GM18951	blood:	n/a	n/a
21	POLR2A	chr16:75299779-75300337	Hela-S3	cervix:	n/a	n/a
22	BCL3	chr16:75299878-75300325	A549	lung:	n/a	chr16:75300019-75300028
23	POLR2A	chr16:75299589-75300596	MCF-7	breast:	n/a	n/a
24	TAF1	chr16:75299466-75300357	HepG2	liver:	n/a	n/a
25	POLR2A	chr16:75299084-75300352	GM19193	blood:	n/a	n/a
26	MAX	chr16:75299725-75300735	MCF-7	breast:	n/a	chr16:75300514-75300525
27	MAX	chr16:75299545-75300305	K562	blood:	n/a	n/a
28	CHD2	chr16:75299854-75300466	GM12878	blood:	n/a	n/a
29	REST	chr16:75299713-75300268	HepG2	liver:	n/a	chr16:75300117-75300130
30	TAF1	chr16:75299532-75300278	HepG2	liver:	n/a	n/a
31	BRCA1	chr16:75300094-75300279	GM12878	blood:	n/a	n/a
32	ZBTB7A	chr16:75299198-75300272	K562	blood:	n/a	n/a
33	SMARCB1	chr16:75298541-75300871	Hela-S3	cervix:	n/a	n/a
34	CHD2	chr16:75299830-75300287	Hela-S3	cervix:	n/a	n/a
35	MYC	chr16:75299870-75300393	K562	blood:	n/a	n/a
36	POLR2A	chr16:75299010-75300434	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr16:75299656-75300317	PFSK-1	brain:	n/a	n/a
38	RAD21	chr16:75299826-75300281	HepG2	liver:	n/a	chr16:75300103-75300115
39	POLR2A	chr16:75298559-75300896	HepG2	liver:	n/a	n/a
40	POLR2A	chr16:75299676-75300266	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr16:75299680-75300391	GM12878	blood:	n/a	n/a
42	YY1	chr16:75299174-75300284	HepG2	liver:	n/a	chr16:75299459-75299467 chr16:75299651-75299665
43	POLR2A	chr16:75299117-75300275	HepG2	liver:	n/a	n/a
44	POLR2A	chr16:75299662-75300409	HCT-116	colon:	n/a	n/a
45	POLR2A	chr16:75299764-75300249	PANC-1	pancreas:	n/a	n/a
46	MYBL2	chr16:75299756-75300338	HepG2	liver:	n/a	n/a
47	MAZ	chr16:75299125-75300446	K562	blood:	n/a	n/a
48	MYBL2	chr16:75299622-75300523	HepG2	liver:	n/a	n/a
49	NFIC	chr16:75299832-75300349	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr16:75299672-75300268	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:75297370..75301171-chr16:75316900..75323378,8	MCF-7	breast:
2	chr16:75298469..75301995-chr16:75337781..75340827,6	MCF-7	breast:
3	chr1:149856624..149859065-chr16:75299349..75301400,2	MCF-7	breast:
4	chr16:75298649..75302173-chr16:75337597..75342572,10	MCF-7	breast:
5	chr16:75296409..75300528-chr16:75549238..75552790,3	MCF-7	breast:
6	chr16:75299703..75301536-chr16:75319943..75321807,2	K562	blood:

Variant related genes	Relation type
BCAR1	TF binding region
ENSG00000184678	Chromatin interaction
ENSG00000262583	Chromatin interaction
ENSG00000153774	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000252101	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs13331385	0.86[EUR][1000 genomes]
rs13337017	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13337397	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2287990	0.86[EUR][1000 genomes]
rs28439846	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28595463	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28690217	0.86[EUR][1000 genomes]
rs2870463	0.80[EUR][1000 genomes]
rs3743614	0.96[EUR][1000 genomes]
rs3826110	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56787417	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60470336	0.80[EUR][1000 genomes]
rs60852020	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60879082	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61634868	0.80[EUR][1000 genomes]
rs6564232	0.80[EUR][1000 genomes]
rs6564233	0.80[EUR][1000 genomes]
rs6564234	0.80[EUR][1000 genomes]
rs6564236	0.80[EUR][1000 genomes]
rs6564237	0.80[EUR][1000 genomes]
rs66473537	0.80[EUR][1000 genomes]
rs66535165	0.80[EUR][1000 genomes]
rs66881382	0.80[EUR][1000 genomes]
rs67478528	0.80[EUR][1000 genomes]
rs7197389	0.80[EUR][1000 genomes]
rs7197746	0.80[EUR][1000 genomes]
rs7202844	0.80[EUR][1000 genomes]
rs7202877	0.80[EUR][1000 genomes]
rs72802372	0.80[EUR][1000 genomes]
rs72802375	0.80[EUR][1000 genomes]
rs72804106	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73605136	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73605139	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8046145	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8048529	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8053595	0.80[EUR][1000 genomes]
rs8054218	0.80[EUR][1000 genomes]
rs8062169	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8063014	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9921586	0.82[EUR][1000 genomes]
rs9940370	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	esv1806781	chr16:75235390-75307470	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv906909	chr16:75236154-75316074	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	esv1792587	chr16:75237936-75305783	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv906910	chr16:75251299-75316074	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv906912	chr16:75252526-75320827	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	esv1813349	chr16:75257361-75302684	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
14	nsv906913	chr16:75267743-75306402	Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
15	nsv471095	chr16:75269533-75320827	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
16	esv3329193	chr16:75298476-75301324	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7185352	CFDP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75297400-75300400	Active TSS	Aorta	Aorta
2	chr16:75297800-75300400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr16:75298000-75300400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr16:75298200-75300600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr16:75298200-75300600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr16:75298400-75300400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr16:75298400-75300800	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr16:75298600-75300400	Active TSS	Small Intestine	intestine
9	chr16:75298600-75300600	Active TSS	Fetal Kidney	kidney
10	chr16:75298800-75300400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr16:75298800-75300400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:75299000-75300400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
13	chr16:75299000-75300400	Active TSS	Fetal Intestine Large	intestine
14	chr16:75299000-75300400	Active TSS	Psoas Muscle	Psoas
15	chr16:75299000-75300400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr16:75299000-75300400	Bivalent/Poised TSS	Thymus	Thymus
17	chr16:75299000-75300400	Active TSS	A549	lung
18	chr16:75299000-75300800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr16:75299200-75300400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr16:75299200-75300400	Active TSS	Fetal Stomach	stomach
21	chr16:75299400-75300400	Bivalent/Poised TSS	Fetal Thymus	thymus
22	chr16:75299600-75300400	Bivalent/Poised TSS	Primary B cells from cord blood	blood
23	chr16:75299600-75300400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr16:75299600-75300400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
25	chr16:75300000-75300400	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr16:75300000-75300400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
27	chr16:75300000-75300400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr16:75300000-75300400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr16:75300000-75300400	Flanking Active TSS	Esophagus	oesophagus
30	chr16:75300000-75300400	Flanking Active TSS	HUVEC	blood vessel
31	chr16:75300000-75300600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr16:75300000-75300600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr16:75300000-75300600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr16:75300000-75300600	Flanking Active TSS	Colonic Mucosa	Colon
35	chr16:75300000-75300600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr16:75300000-75300600	Flanking Active TSS	Pancreas	Pancrea
37	chr16:75300000-75300600	Flanking Active TSS	HMEC	breast
38	chr16:75300000-75300600	Flanking Active TSS	NH-A	brain
39	chr16:75300000-75300600	Flanking Active TSS	NHLF	lung
40	chr16:75300000-75300600	Flanking Active TSS	Osteobl	bone
41	chr16:75300000-75300800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr16:75300000-75300800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr16:75300000-75300800	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr16:75300000-75300800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr16:75300000-75300800	Flanking Active TSS	HSMM	muscle
46	chr16:75300000-75301000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr16:75300000-75301000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr16:75300000-75301200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr16:75300000-75301200	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr16:75300000-75301200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links