Variant report

Variant	rs73530295
Chromosome Location	chr16:31204179-31204180
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr16:31204054-31204346	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:31203893-31205114	GM12878	blood:	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	chr16:31200824-31205933	K562	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	chr16:31196323-31214177	GM12892	blood:	n/a	n/a
9	POLR2A	chr16:31196746-31214240	GM12891	blood:	n/a	n/a
10	POLR2A	chr16:31203206-31211716	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr16:31202998-31205944	K562	blood:	n/a	n/a
12	POLR2A	chr16:31196474-31211565	HepG2	liver:	n/a	n/a
13	POLR2A	chr16:31202384-31204950	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr16:31197288-31214611	GM12891	blood:	n/a	n/a
15	POLR2A	chr16:31196812-31206781	K562	blood:	n/a	n/a
16	POLR2A	chr16:31203244-31205927	HL-60	blood:	n/a	n/a
17	POLR2A	chr16:31200960-31211583	GM12878	blood:	n/a	n/a
18	POLR2A	chr16:31200835-31205914	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr16:31202310-31205886	MCF-7	breast:	n/a	n/a
20	POLR2A	chr16:31203896-31205119	GM12878	blood:	n/a	n/a
21	HEY1	chr16:31200824-31205952	K562	blood:	n/a	n/a
22	POLR2A	chr16:31196345-31214090	GM12892	blood:	n/a	n/a
23	POLR2A	chr16:31196418-31206879	K562	blood:	n/a	n/a
24	POLR2A	chr16:31196170-31216645	HepG2	liver:	n/a	n/a
25	POLR2A	chr16:31204073-31204251	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr16:31204075-31204994	PANC-1	pancreas:	n/a	n/a
27	BCL3	chr16:31202102-31205638	K562	blood:	n/a	chr16:31204643-31204652
28	POLR2A	chr16:31196205-31214694	GM12891	blood:	n/a	n/a
29	POLR2A	chr16:31204084-31204347	U87	brain:	n/a	n/a
30	POLR2A	chr16:31195988-31211763	HepG2	liver:	n/a	n/a
31	POLR2A	chr16:31202910-31205956	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr16:31190296-31214398	PANC-1	pancreas:	n/a	n/a
33	POLR2A	chr16:31204056-31205081	U87	brain:	n/a	n/a
34	POLR2A	chr16:31201921-31206799	K562	blood:	n/a	n/a
35	POLR2A	chr16:31190139-31214678	GM12878	blood:	n/a	n/a
36	POLR2A	chr16:31204169-31205146	HepG2	liver:	n/a	n/a
37	POLR2A	chr16:31204048-31204863	GM18505	blood:	n/a	n/a
38	POLR2A	chr16:31204178-31205087	U87	brain:	n/a	n/a
39	POLR2A	chr16:31202402-31211470	K562	blood:	n/a	n/a
40	POLR2A	chr16:31202881-31206847	HL-60	blood:	n/a	n/a
41	POLR2A	chr16:31203901-31205602	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr16:31203962-31204442	HepG2	liver:	n/a	n/a
43	POLR2A	chr16:31196433-31205934	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr16:31196461-31211058	K562	blood:	n/a	n/a
45	POLR2A	chr16:31196271-31210577	K562	blood:	n/a	n/a
46	POLR2A	chr16:31196143-31216629	A549	lung:	n/a	n/a
47	POLR2A	chr16:31195969-31215569	GM12878	blood:	n/a	n/a
48	POLR2A	chr16:31196034-31207331	K562	blood:	n/a	n/a
49	POLR2A	chr16:31197314-31214097	SK-N-MC	brain:	n/a	n/a
50	POLR2A	chr16:31200873-31211595	Hela-S3	cervix:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31203117..31206112-chr16:31465658..31467942,3	K562	blood:
2	chr16:30994262..30997879-chr16:31200586..31204219,3	K562	blood:
3	chr16:31202583..31204612-chr16:31229217..31230740,2	K562	blood:
4	chr16:31116825..31119866-chr16:31203052..31206563,4	K562	blood:
5	chr16:31200877..31205446-chr16:31331682..31336266,5	K562	blood:
6	chr16:31127717..31129231-chr16:31203742..31205961,2	K562	blood:
7	chr16:31083121..31087142-chr16:31201423..31205329,4	K562	blood:
8	chr16:30969131..30970956-chr16:31201908..31204585,2	MCF-7	breast:
9	chr16:31127731..31129409-chr16:31203290..31205242,2	K562	blood:
10	chr16:31202771..31204452-chr16:31233343..31235697,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260060	TF binding region
ENSG00000262766	Chromatin interaction
ENSG00000169896	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000099377	Chromatin interaction
ENSG00000268863	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000103510	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]
rs73530302	1.00[AFR][1000 genomes]
rs73532204	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	chr16:31194200-31205800	Strong transcription	Small Intestine	intestine
2	chr16:31194200-31208000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:31194200-31208200	Strong transcription	Rectal Mucosa Donor 31	rectum
4	chr16:31194400-31208200	Strong transcription	HSMMtube	muscle
5	chr16:31194400-31208400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
6	chr16:31194400-31211000	Strong transcription	Fetal Intestine Large	intestine
7	chr16:31194600-31207000	Strong transcription	Aorta	Aorta
8	chr16:31194600-31207800	Strong transcription	Placenta Amnion	Placenta Amnion
9	chr16:31194600-31208400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr16:31194600-31208800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:31194600-31209000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:31194800-31208000	Strong transcription	Brain Angular Gyrus	brain
13	chr16:31195000-31208000	Strong transcription	Esophagus	oesophagus
14	chr16:31195000-31208200	Strong transcription	NHEK	skin
15	chr16:31195000-31208400	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr16:31195000-31208800	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr16:31195000-31208800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr16:31195000-31208800	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr16:31195000-31211000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr16:31195000-31211000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr16:31195200-31206400	Strong transcription	Pancreatic Islets	Pancreatic Islet
22	chr16:31195200-31208000	Strong transcription	Fetal Kidney	kidney
23	chr16:31195200-31208400	Strong transcription	Fetal Lung	lung
24	chr16:31195400-31207400	Strong transcription	Colon Smooth Muscle	Colon
25	chr16:31195400-31208000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr16:31195400-31208000	Strong transcription	HUVEC	blood vessel
27	chr16:31195400-31208400	Strong transcription	Right Ventricle	heart
28	chr16:31195400-31208400	Strong transcription	HMEC	breast
29	chr16:31195400-31208600	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr16:31195400-31208800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr16:31195400-31209000	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr16:31195400-31209200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr16:31195400-31210200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr16:31195400-31211200	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr16:31195400-31211400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:31195400-31211600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr16:31195400-31211600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr16:31195400-31212400	Strong transcription	Fetal Stomach	stomach
39	chr16:31195400-31213000	Weak transcription	Right Atrium	heart
40	chr16:31195600-31208000	Strong transcription	Brain Hippocampus Middle	brain
41	chr16:31195600-31208000	Strong transcription	Left Ventricle	heart
42	chr16:31195600-31208000	Strong transcription	Rectal Smooth Muscle	rectum
43	chr16:31195600-31208000	Strong transcription	K562	blood
44	chr16:31195600-31208200	Strong transcription	Brain Anterior Caudate	brain
45	chr16:31195600-31208400	Strong transcription	Brain Substantia Nigra	brain
46	chr16:31195600-31208600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr16:31195600-31208800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr16:31195600-31208800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr16:31195600-31209400	Strong transcription	Lung	lung
50	chr16:31195600-31210600	Strong transcription	A549	lung

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