Variant report

Variant	rs2278020
Chromosome Location	chr16:75270721-75270722
allele	A/C
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	chr16:75269489-75270884	A549	lung:	n/a	n/a
2	POLR2A	chr16:75270595-75271356	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr16:75267324-75275839	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr16:75270672-75270827	A549	lung:	n/a	n/a
5	POLR2A	chr16:75269865-75270900	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr16:75269895-75271850	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr16:75269791-75271640	HepG2	liver:	n/a	n/a
8	POLR2A	chr16:75270560-75271178	A549	lung:	n/a	n/a
9	POLR2A	chr16:75270637-75270805	A549	lung:	n/a	n/a
10	POLR2A	chr16:75270651-75270853	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr16:75269882-75270762	IMR90	lung:	n/a	n/a
12	POLR2A	chr16:75269247-75272396	HepG2	liver:	n/a	n/a
13	POLR2A	chr16:75268944-75271821	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75270029..75275734-chr16:75275780..75279452,5	K562	blood:

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

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2059249	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28564254	0.88[ASN][1000 genomes]
rs36097424	1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs3743613	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4261573	0.83[CEU][hapmap];0.87[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs4887810	0.83[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57613349	0.85[ASN][1000 genomes]
rs72802394	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8046743	0.87[ASN][1000 genomes]
rs8060989	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75260800-75278000	Weak transcription	Small Intestine	intestine
2	chr16:75261400-75271800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr16:75261400-75272400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:75261800-75272200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:75262000-75271800	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr16:75262000-75277400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
7	chr16:75262800-75270800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr16:75263000-75271600	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr16:75263200-75274800	Weak transcription	Fetal Kidney	kidney
10	chr16:75263600-75271400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr16:75264200-75274800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr16:75264800-75271800	Strong transcription	Osteobl	bone
13	chr16:75265200-75272000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr16:75266400-75271000	Strong transcription	Brain Germinal Matrix	brain
15	chr16:75266400-75271200	Strong transcription	Fetal Brain Female	brain
16	chr16:75266400-75272000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr16:75266600-75272200	Strong transcription	Lung	lung
18	chr16:75266600-75278800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:75267200-75271400	Genic enhancers	Brain Hippocampus Middle	brain
20	chr16:75267200-75272800	Genic enhancers	NHLF	lung
21	chr16:75267400-75271000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr16:75267600-75271400	Genic enhancers	Brain Inferior Temporal Lobe	brain
23	chr16:75267600-75271600	Genic enhancers	Right Ventricle	heart
24	chr16:75267600-75272200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr16:75267600-75273600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr16:75268000-75271600	Genic enhancers	Gastric	stomach
27	chr16:75268000-75277200	Genic enhancers	Spleen	Spleen
28	chr16:75268200-75271600	Genic enhancers	Stomach Smooth Muscle	stomach
29	chr16:75268200-75277000	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr16:75268400-75271400	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr16:75268400-75271400	Weak transcription	Right Atrium	heart
32	chr16:75268400-75271600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr16:75268400-75271600	Strong transcription	Fetal Intestine Small	intestine
34	chr16:75268400-75272000	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr16:75268400-75275600	Weak transcription	GM12878-XiMat	blood
36	chr16:75268600-75270800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr16:75268600-75271000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr16:75268600-75271000	Strong transcription	Aorta	Aorta
39	chr16:75268600-75271000	Strong transcription	Fetal Stomach	stomach
40	chr16:75268600-75271000	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr16:75268600-75271200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr16:75268600-75271200	Strong transcription	Colon Smooth Muscle	Colon
43	chr16:75268600-75271200	Weak transcription	Fetal Brain Male	brain
44	chr16:75268600-75271200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr16:75268600-75271200	Strong transcription	HepG2	liver
46	chr16:75268600-75271600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr16:75268600-75271600	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr16:75268600-75271800	Strong transcription	Colonic Mucosa	Colon
49	chr16:75268600-75271800	Strong transcription	Esophagus	oesophagus
50	chr16:75268600-75272000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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