Variant report

Variant	rs533842647
Chromosome Location	chr16:75274220-75274221
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	chr16:75273759-75274416	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr16:75273871-75274276	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr16:75273771-75274443	IMR90	lung:	n/a	n/a
4	POLR2A	chr16:75267324-75275839	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr16:75273874-75274276	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr16:75271963-75274353	HepG2	liver:	n/a	n/a
7	POLR2A	chr16:75273779-75274377	HUVEC	blood vessel:	n/a	n/a
8	MAZ	chr16:75271480-75274285	IMR90	lung:	n/a	chr16:75273779-75273788 chr16:75272890-75272897 chr16:75273779-75273789 chr16:75271860-75271870 chr16:75273778-75273791 chr16:75273779-75273790 chr16:75273780-75273789 chr16:75273781-75273788 chr16:75274103-75274112 chr16:75273061-75273070 chr16:75273780-75273790 chr16:75273435-75273445
9	POLR2A	chr16:75273594-75274264	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:75271441..75274374-chr6:74228830..74231678,2	MCF-7	breast:
2	chr16:75260096..75262598-chr16:75274071..75277051,2	K562	blood:
3	chr16:75271644..75278130-chr16:75410170..75415316,7	MCF-7	breast:
4	chr16:75270029..75275734-chr16:75275780..75279452,5	K562	blood:
5	chr16:75266165..75267997-chr16:75273456..75276001,2	K562	blood:
6	chr16:75268472..75270421-chr16:75272805..75274376,2	MCF-7	breast:

Variant related genes	Relation type
BCAR1	TF binding region
ENSG00000156508	Chromatin interaction
ENSG00000261783	Chromatin interaction
ENSG00000050820	Chromatin interaction
ENSG00000240338	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 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	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv906911	chr16:75252526-75296247	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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
16	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
17	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
18	esv1843498	chr16:75271642-75296844	Genic enhancers Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
19	nsv9459	chr16:75274167-75277500	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75260800-75278000	Weak transcription	Small Intestine	intestine
2	chr16:75262000-75277400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
3	chr16:75263200-75274800	Weak transcription	Fetal Kidney	kidney
4	chr16:75264200-75274800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr16:75266600-75278800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:75268000-75277200	Genic enhancers	Spleen	Spleen
7	chr16:75268200-75277000	Strong transcription	H9 Cell Line	embryonic stem cell
8	chr16:75268400-75275600	Weak transcription	GM12878-XiMat	blood
9	chr16:75268600-75277800	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr16:75268800-75275000	Weak transcription	K562	blood
11	chr16:75269600-75280600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr16:75269800-75274800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:75270400-75278400	Genic enhancers	Fetal Muscle Leg	muscle
14	chr16:75270400-75278800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr16:75270600-75274800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr16:75271000-75275000	Enhancers	Brain Substantia Nigra	brain
17	chr16:75271000-75275400	Genic enhancers	Fetal Stomach	stomach
18	chr16:75271200-75274800	Enhancers	Left Ventricle	heart
19	chr16:75271200-75275000	Enhancers	Fetal Brain Male	brain
20	chr16:75271200-75278000	Genic enhancers	Fetal Muscle Trunk	muscle
21	chr16:75271400-75275200	Enhancers	Right Atrium	heart
22	chr16:75271600-75274400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:75271600-75274400	Enhancers	HMEC	breast
24	chr16:75271600-75274800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr16:75271600-75275400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr16:75271800-75274400	Genic enhancers	Colonic Mucosa	Colon
27	chr16:75271800-75274400	Genic enhancers	Osteobl	bone
28	chr16:75271800-75278200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr16:75272000-75274400	Genic enhancers	A549	lung
30	chr16:75272200-75274600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr16:75272200-75275200	Genic enhancers	Lung	lung
32	chr16:75272400-75274800	Enhancers	Fetal Heart	heart
33	chr16:75272400-75276200	Genic enhancers	HUVEC	blood vessel
34	chr16:75272600-75274400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
35	chr16:75272800-75274400	Enhancers	NHEK	skin
36	chr16:75272800-75278800	Genic enhancers	Gastric	stomach
37	chr16:75273000-75277200	Genic enhancers	Right Ventricle	heart
38	chr16:75273200-75274400	Enhancers	HSMM	muscle
39	chr16:75273200-75274800	Enhancers	Brain Anterior Caudate	brain
40	chr16:75273200-75275800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr16:75273200-75275800	Genic enhancers	NH-A	brain
42	chr16:75273200-75276000	Genic enhancers	Muscle Satellite Cultured Cells	--
43	chr16:75273200-75276200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr16:75273200-75277000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr16:75273200-75277200	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr16:75273400-75274400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr16:75273400-75274600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr16:75273400-75274800	Genic enhancers	Brain Inferior Temporal Lobe	brain
49	chr16:75273400-75276200	Weak transcription	Hela-S3	cervix
50	chr16:75273400-75277000	Genic enhancers	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links