Variant report

Variant	rs6736533
Chromosome Location	chr2:20874049-20874050
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	chr2:20873903-20874093	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr2:20873768-20877743	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr2:20874048-20874104	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20870520..20872957-chr2:20873050..20874641,2	K562	blood:
2	chr2:20864693..20870164-chr2:20870858..20875835,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260396	TF binding region
ENSG00000143869	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10176721	1.00[EUR][1000 genomes]
rs10200826	1.00[EUR][1000 genomes]
rs10201427	1.00[EUR][1000 genomes]
rs10203073	1.00[EUR][1000 genomes]
rs11893093	1.00[EUR][1000 genomes]
rs1437408	1.00[EUR][1000 genomes]
rs16988071	1.00[EUR][1000 genomes]
rs1866043	1.00[EUR][1000 genomes]
rs340605	1.00[EUR][1000 genomes]
rs340608	1.00[EUR][1000 genomes]
rs340614	1.00[EUR][1000 genomes]
rs548324	1.00[EUR][1000 genomes]
rs553687	1.00[EUR][1000 genomes]
rs56737091	1.00[EUR][1000 genomes]
rs571566	1.00[EUR][1000 genomes]
rs57494499	1.00[EUR][1000 genomes]
rs57524662	1.00[EUR][1000 genomes]
rs582107	1.00[EUR][1000 genomes]
rs58590712	1.00[EUR][1000 genomes]
rs58696000	1.00[EUR][1000 genomes]
rs59882809	1.00[EUR][1000 genomes]
rs60283906	1.00[EUR][1000 genomes]
rs61478003	1.00[EUR][1000 genomes]
rs642152	1.00[EUR][1000 genomes]
rs648568	1.00[EUR][1000 genomes]
rs662193	1.00[EUR][1000 genomes]
rs6759981	1.00[EUR][1000 genomes]
rs73224614	1.00[EUR][1000 genomes]
rs73235054	1.00[EUR][1000 genomes]
rs73235060	1.00[EUR][1000 genomes]
rs73235063	1.00[EUR][1000 genomes]
rs73235064	1.00[EUR][1000 genomes]
rs73235072	1.00[EUR][1000 genomes]
rs73235079	1.00[EUR][1000 genomes]
rs73235100	1.00[EUR][1000 genomes]
rs73237114	1.00[EUR][1000 genomes]
rs73237135	1.00[EUR][1000 genomes]
rs73237147	1.00[EUR][1000 genomes]
rs839914	1.00[EUR][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	nsv1008473	chr2:20811359-20879186	Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Flanking 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 miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535599	chr2:20811359-20879186	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv527901	chr2:20818458-20876386	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
4	nsv873726	chr2:20829962-20876260	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
5	nsv873727	chr2:20838318-20876260	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
6	nsv535600	chr2:20847698-20879186	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1003220	chr2:20847698-20895698	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv535601	chr2:20847698-20895698	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20869600-20874800	Weak transcription	Right Atrium	heart
2	chr2:20871200-20875400	Weak transcription	Gastric	stomach
3	chr2:20871200-20885800	Weak transcription	Right Ventricle	heart
4	chr2:20871400-20875400	Weak transcription	Pancreas	Pancrea
5	chr2:20871400-20877400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:20871400-20879000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:20871600-20874800	Weak transcription	GM12878-XiMat	blood
8	chr2:20871600-20875400	Weak transcription	Aorta	Aorta
9	chr2:20872000-20874200	Weak transcription	Liver	Liver
10	chr2:20872400-20874600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
11	chr2:20872400-20874800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr2:20872600-20874200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr2:20872600-20874200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:20872600-20875400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
15	chr2:20872600-20875600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
16	chr2:20872800-20876200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
17	chr2:20873200-20876200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:20873400-20875000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:20873400-20875200	Enhancers	HepG2	liver
20	chr2:20873400-20875400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr2:20873600-20874200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr2:20873600-20875400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:20873600-20875600	Enhancers	HUVEC	blood vessel
24	chr2:20873600-20876000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:20873600-20876000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr2:20873800-20874400	Bivalent Enhancer	Placenta	Placenta
27	chr2:20873800-20874600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:20873800-20875400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:20873800-20875600	Enhancers	Spleen	Spleen
30	chr2:20874000-20874400	Enhancers	Left Ventricle	heart
31	chr2:20874000-20874600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
32	chr2:20874000-20874600	Genic enhancers	Primary B cells from peripheral blood	blood
33	chr2:20874000-20875800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:20874000-20876200	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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