Variant report

Variant	rs73532204
Chromosome Location	chr16:31206525-31206526
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31205085-31214379	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr16:31206079-31207008	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr16:31200760-31206840	GM12891	blood:	n/a	n/a
4	POLR2A	chr16:31196099-31214010	K562	blood:	n/a	n/a
5	POLR2A	chr16:31206124-31206526	GM12878	blood:	n/a	n/a
6	POLR2A	chr16:31196354-31214629	GM12891	blood:	n/a	n/a
7	POLR2A	chr16:31196046-31214408	GM12892	blood:	n/a	n/a
8	POLR2A	chr16:31204382-31206635	GM12878	blood:	n/a	n/a
9	POLR2A	chr16:31196323-31214177	GM12892	blood:	n/a	n/a
10	POLR2A	chr16:31196746-31214240	GM12891	blood:	n/a	n/a
11	POLR2A	chr16:31206208-31206631	HCT-116	colon:	n/a	n/a
12	POLR2A	chr16:31203206-31211716	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr16:31206165-31206539	HepG2	liver:	n/a	n/a
14	POLR2A	chr16:31196474-31211565	HepG2	liver:	n/a	n/a
15	BCL3	chr16:31205675-31206843	K562	blood:	n/a	n/a
16	HEY1	chr16:31206026-31206795	K562	blood:	n/a	n/a
17	POLR2A	chr16:31205097-31211681	U87	brain:	n/a	n/a
18	POU2F2	chr16:31206109-31206562	GM12891	blood:	n/a	n/a
19	POLR2A	chr16:31206171-31206536	ECC-1	luminal epithelium:	n/a	n/a
20	POU2F2	chr16:31206086-31206664	GM12878	blood:	n/a	n/a
21	POLR2A	chr16:31197288-31214611	GM12891	blood:	n/a	n/a
22	POLR2A	chr16:31206131-31206525	K562	blood:	n/a	n/a
23	POLR2A	chr16:31206150-31206737	U87	brain:	n/a	n/a
24	POLR2A	chr16:31206036-31208465	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr16:31206047-31207268	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr16:31196812-31206781	K562	blood:	n/a	n/a
27	POLR2A	chr16:31206035-31206871	HL-60	blood:	n/a	n/a
28	POLR2A	chr16:31200960-31211583	GM12878	blood:	n/a	n/a
29	POLR2A	chr16:31206062-31206551	K562	blood:	n/a	n/a
30	POLR2A	chr16:31206225-31206618	SK-N-SH	brain:	n/a	n/a
31	BCL3	chr16:31206045-31206748	A549	lung:	n/a	n/a
32	POLR2A	chr16:31206119-31206585	GM12878	blood:	n/a	n/a
33	POLR2A	chr16:31196345-31214090	GM12892	blood:	n/a	n/a
34	POU2F2	chr16:31206145-31206537	GM12878	blood:	n/a	n/a
35	POLR2A	chr16:31196418-31206879	K562	blood:	n/a	n/a
36	POLR2A	chr16:31196170-31216645	HepG2	liver:	n/a	n/a
37	POLR2A	chr16:31205841-31206653	HUVEC	blood vessel:	n/a	n/a
38	NFATC1	chr16:31206042-31206755	GM12878	blood:	n/a	n/a
39	POLR2A	chr16:31204442-31206819	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr16:31196205-31214694	GM12891	blood:	n/a	n/a
41	POLR2A	chr16:31206176-31206709	GM18505	blood:	n/a	n/a
42	IRF1	chr16:31206454-31206536	K562	blood:	n/a	n/a
43	POLR2A	chr16:31195988-31211763	HepG2	liver:	n/a	n/a
44	POLR2A	chr16:31190296-31214398	PANC-1	pancreas:	n/a	n/a
45	PML	chr16:31206208-31206870	K562	blood:	n/a	n/a
46	POLR2A	chr16:31201921-31206799	K562	blood:	n/a	n/a
47	POLR2A	chr16:31190139-31214678	GM12878	blood:	n/a	n/a
48	PML	chr16:31206032-31206872	GM12878	blood:	n/a	n/a
49	POLR2A	chr16:31202402-31211470	K562	blood:	n/a	n/a
50	POLR2A	chr16:31202881-31206847	HL-60	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30958903..30961424-chr16:31206052..31208259,2	MCF-7	breast:
2	chr16:31116825..31119866-chr16:31203052..31206563,4	K562	blood:
3	chr16:31084069..31085875-chr16:31204560..31207002,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260060	TF binding region
ENSG00000167394	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000261487	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000167395	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17839572	0.85[AFR][1000 genomes]
rs57108507	0.80[AFR][1000 genomes]
rs60534953	1.00[AFR][1000 genomes]
rs61733965	0.96[AFR][1000 genomes]
rs67676356	0.96[AFR][1000 genomes]
rs68121698	0.85[AFR][1000 genomes]
rs7202897	1.00[AFR][1000 genomes]
rs73530287	0.96[AFR][1000 genomes]
rs73530295	1.00[AFR][1000 genomes]
rs73530302	1.00[AFR][1000 genomes]
rs73532236	0.85[AFR][1000 genomes]
rs73532252	1.00[AFR][1000 genomes]
rs73532256	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
6	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
7	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
8	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31194200-31208000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:31194200-31208200	Strong transcription	Rectal Mucosa Donor 31	rectum
3	chr16:31194400-31208200	Strong transcription	HSMMtube	muscle
4	chr16:31194400-31208400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
5	chr16:31194400-31211000	Strong transcription	Fetal Intestine Large	intestine
6	chr16:31194600-31207000	Strong transcription	Aorta	Aorta
7	chr16:31194600-31207800	Strong transcription	Placenta Amnion	Placenta Amnion
8	chr16:31194600-31208400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:31194600-31208800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr16:31194600-31209000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:31194800-31208000	Strong transcription	Brain Angular Gyrus	brain
12	chr16:31195000-31208000	Strong transcription	Esophagus	oesophagus
13	chr16:31195000-31208200	Strong transcription	NHEK	skin
14	chr16:31195000-31208400	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr16:31195000-31208800	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr16:31195000-31208800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr16:31195000-31208800	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr16:31195000-31211000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr16:31195000-31211000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr16:31195200-31208000	Strong transcription	Fetal Kidney	kidney
21	chr16:31195200-31208400	Strong transcription	Fetal Lung	lung
22	chr16:31195400-31207400	Strong transcription	Colon Smooth Muscle	Colon
23	chr16:31195400-31208000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
24	chr16:31195400-31208000	Strong transcription	HUVEC	blood vessel
25	chr16:31195400-31208400	Strong transcription	Right Ventricle	heart
26	chr16:31195400-31208400	Strong transcription	HMEC	breast
27	chr16:31195400-31208600	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr16:31195400-31208800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr16:31195400-31209000	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr16:31195400-31209200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr16:31195400-31210200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr16:31195400-31211200	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr16:31195400-31211400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:31195400-31211600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr16:31195400-31211600	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr16:31195400-31212400	Strong transcription	Fetal Stomach	stomach
37	chr16:31195400-31213000	Weak transcription	Right Atrium	heart
38	chr16:31195600-31208000	Strong transcription	Brain Hippocampus Middle	brain
39	chr16:31195600-31208000	Strong transcription	Left Ventricle	heart
40	chr16:31195600-31208000	Strong transcription	Rectal Smooth Muscle	rectum
41	chr16:31195600-31208000	Strong transcription	K562	blood
42	chr16:31195600-31208200	Strong transcription	Brain Anterior Caudate	brain
43	chr16:31195600-31208400	Strong transcription	Brain Substantia Nigra	brain
44	chr16:31195600-31208600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr16:31195600-31208800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:31195600-31208800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr16:31195600-31209400	Strong transcription	Lung	lung
48	chr16:31195600-31210600	Strong transcription	A549	lung
49	chr16:31195600-31210600	Strong transcription	NH-A	brain
50	chr16:31195600-31210800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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