Variant report

Variant	rs16970320
Chromosome Location	chr16:70611066-70611067
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	POLR2A	chr16:70610837-70611584	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr16:70611015-70611143	A549	lung:	n/a	n/a
3	CEBPB	chr16:70610391-70611143	HepG2	liver:	n/a	chr16:70610981-70610992
4	CEBPB	chr16:70610879-70611180	MCF-7	breast:	n/a	chr16:70610981-70610992
5	BCL3	chr16:70610085-70611757	A549	lung:	n/a	n/a
6	POLR2A	chr16:70609386-70611569	GM12878	blood:	n/a	n/a
7	NFIC	chr16:70610973-70611769	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr16:70609314-70611763	U87	brain:	n/a	n/a
9	POLR2A	chr16:70609327-70611564	GM12878	blood:	n/a	n/a
10	POLR2A	chr16:70609234-70611733	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr16:70610186-70611565	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr16:70610241-70611424	K562	blood:	n/a	n/a
13	POLR2A	chr16:70610269-70611603	ECC-1	luminal epithelium:	n/a	n/a
14	MTA3	chr16:70609736-70611571	GM12878	blood:	n/a	n/a
15	POLR2A	chr16:70609201-70611753	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr16:70610861-70611565	GM12878	blood:	n/a	n/a
17	POLR2A	chr16:70609298-70611270	HepG2	liver:	n/a	n/a
18	RFX5	chr16:70611012-70611524	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr16:70610181-70611462	GM12892	blood:	n/a	n/a
20	POLR2A	chr16:70605504-70611628	K562	blood:	n/a	n/a
21	FOS	chr16:70610911-70611562	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT5A	chr16:70610932-70611701	GM12878	blood:	n/a	n/a
23	POLR2A	chr16:70609387-70611494	K562	blood:	n/a	n/a
24	JUND	chr16:70610199-70611695	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr16:70610216-70611590	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr16:70610819-70611464	GM12878	blood:	n/a	n/a
27	POLR2A	chr16:70609324-70611432	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr16:70610217-70611709	U87	brain:	n/a	n/a
29	POLR2A	chr16:70605539-70612779	K562	blood:	n/a	n/a
30	CEBPB	chr16:70610843-70611276	A549	lung:	n/a	chr16:70610981-70610992
31	POLR2A	chr16:70609370-70614299	A549	lung:	n/a	n/a
32	POLR2A	chr16:70609152-70611557	GM12892	blood:	n/a	n/a
33	FOSL2	chr16:70609219-70611487	HepG2	liver:	n/a	n/a
34	POLR2A	chr16:70610242-70611633	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr16:70609264-70611690	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr16:70610848-70611125	H1-hESC	embryonic stem cell:	n/a	chr16:70610981-70610992
37	POLR2A	chr16:70609382-70611390	K562	blood:	n/a	n/a
38	POLR2A	chr16:70609319-70611603	HL-60	blood:	n/a	n/a
39	POLR2A	chr16:70610862-70611152	H1-neurons	neurons:	n/a	n/a
40	POLR2A	chr16:70609293-70611676	SK-N-SH	brain:	n/a	n/a
41	MAZ	chr16:70610833-70611739	IMR90	lung:	n/a	n/a
42	POLR2A	chr16:70610193-70611609	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr16:70610329-70611399	GM18951	blood:	n/a	n/a
44	POLR2A	chr16:70609320-70611757	U87	brain:	n/a	n/a
45	JUND	chr16:70610949-70611518	A549	lung:	n/a	n/a
46	BCL3	chr16:70610067-70611604	K562	blood:	n/a	n/a
47	NFATC1	chr16:70610056-70611250	GM12878	blood:	n/a	n/a
48	MYC	chr16:70610321-70611598	MCF10A-Er-Src	breast:	n/a	chr16:70610459-70610468 chr16:70610454-70610473 chr16:70610558-70610567 chr16:70610459-70610466 chr16:70610458-70610469
49	POLR2A	chr16:70610233-70611449	NB4	blood:	n/a	n/a
50	CEBPB	chr16:70610826-70611166	K562	blood:	n/a	chr16:70610981-70610992

No.	Distal block	Cell Line	Cell type
1	chr16:70607368..70609264-chr16:70610510..70612742,2	K562	blood:
2	chr16:70601596..70604589-chr16:70610308..70612754,2	MCF-7	breast:
3	chr16:70610457..70612754-chr16:70614831..70616997,2	K562	blood:

Variant related genes	Relation type
IL34	TF binding region
ENSG00000189091	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs16970459	1.00[CEU][hapmap]
rs2124833	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3886749	0.89[ASN][1000 genomes]
rs4082236	0.89[ASN][1000 genomes]
rs57136896	0.81[ASN][1000 genomes]
rs59639975	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60775369	0.80[ASN][1000 genomes]
rs61191728	0.96[ASN][1000 genomes]
rs6499325	0.81[ASN][1000 genomes]
rs7192031	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7196201	0.89[ASN][1000 genomes]
rs7197333	0.89[ASN][1000 genomes]
rs7199331	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs74026082	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs74026083	0.92[ASN][1000 genomes]
rs74026085	0.89[ASN][1000 genomes]
rs8049475	0.88[ASN][1000 genomes]
rs8049598	0.87[ASN][1000 genomes]
rs8061705	0.81[ASN][1000 genomes]
rs8062231	0.85[ASN][1000 genomes]
rs8063029	0.87[ASN][1000 genomes]
rs9924014	1.00[CEU][hapmap]
rs9924460	1.00[CEU][hapmap]
rs9924487	0.83[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16970320	COG4	cis	multi-tissue	Pritchard

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70581600-70611400	Strong transcription	Brain Germinal Matrix	brain
2	chr16:70605200-70611400	Genic enhancers	Fetal Muscle Leg	muscle
3	chr16:70607000-70611400	Weak transcription	Brain Substantia Nigra	brain
4	chr16:70607000-70613200	Weak transcription	Stomach Mucosa	stomach
5	chr16:70607600-70615400	Weak transcription	Fetal Heart	heart
6	chr16:70607800-70612800	Weak transcription	Brain Hippocampus Middle	brain
7	chr16:70608000-70611200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr16:70608000-70611200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr16:70608000-70613400	Weak transcription	Right Ventricle	heart
10	chr16:70608000-70624600	Weak transcription	Pancreas	Pancrea
11	chr16:70608200-70613200	Weak transcription	HepG2	liver
12	chr16:70608400-70612600	Weak transcription	Fetal Brain Female	brain
13	chr16:70608400-70613400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr16:70608400-70613600	Weak transcription	Ovary	ovary
15	chr16:70608600-70613200	Weak transcription	Left Ventricle	heart
16	chr16:70608600-70613400	Weak transcription	Esophagus	oesophagus
17	chr16:70608600-70613800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr16:70608800-70616000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr16:70609000-70611200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:70609000-70612000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr16:70609000-70612400	Enhancers	NHDF-Ad	bronchial
22	chr16:70609000-70613200	Weak transcription	K562	blood
23	chr16:70609000-70613600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr16:70609000-70613800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr16:70609000-70613800	Weak transcription	Gastric	stomach
26	chr16:70609000-70628000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr16:70609600-70611200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr16:70609600-70611200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr16:70609600-70611200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr16:70609600-70611200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr16:70609600-70611200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr16:70609600-70611200	Enhancers	Duodenum Mucosa	Duodenum
33	chr16:70609600-70611200	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr16:70609600-70611200	Weak transcription	Dnd41	blood
35	chr16:70609600-70611400	Enhancers	Fetal Thymus	thymus
36	chr16:70609600-70611400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr16:70609600-70611400	Enhancers	Hela-S3	cervix
38	chr16:70609600-70611600	Enhancers	Adipose Nuclei	Adipose
39	chr16:70609600-70611600	Enhancers	HUVEC	blood vessel
40	chr16:70609600-70612000	Weak transcription	Primary T cells from cord blood	blood
41	chr16:70609600-70612200	Enhancers	NH-A	brain
42	chr16:70609600-70613400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr16:70609600-70613400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr16:70609600-70613800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr16:70609600-70614000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr16:70609800-70611200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr16:70609800-70611200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr16:70609800-70611400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr16:70609800-70611600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr16:70609800-70611600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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