Variant report

Variant	rs72721794
Chromosome Location	chr4:152013677-152013678
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:151938847..151941392-chr4:152011929..152013807,2	K562	blood:
2	chr4:151935781..151937731-chr4:152012627..152014650,2	K562	blood:
3	chr4:152012551..152014169-chr4:152017965..152020902,2	K562	blood:
4	chr4:152013121..152019006-chr4:152019557..152023559,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201264	Chromatin interaction
ENSG00000145425	Chromatin interaction
ENSG00000198589	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs55644104	1.00[AMR][1000 genomes]
rs55744848	1.00[EUR][1000 genomes]
rs55752281	1.00[AMR][1000 genomes]
rs56085192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56116539	1.00[AMR][1000 genomes]
rs56241356	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56357656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56385344	1.00[AMR][1000 genomes]
rs72719657	1.00[AMR][1000 genomes]
rs72719659	1.00[AMR][1000 genomes]
rs72719661	1.00[AMR][1000 genomes]
rs72719665	1.00[AMR][1000 genomes]
rs72719674	1.00[AMR][1000 genomes]
rs72719676	1.00[AMR][1000 genomes]
rs72719677	1.00[AMR][1000 genomes]
rs72719679	1.00[AMR][1000 genomes]
rs72719681	1.00[AMR][1000 genomes]
rs72719682	1.00[AMR][1000 genomes]
rs72719683	1.00[AMR][1000 genomes]
rs72719692	1.00[AMR][1000 genomes]
rs72719693	1.00[AMR][1000 genomes]
rs72719695	1.00[AMR][1000 genomes]
rs72721703	1.00[AMR][1000 genomes]
rs72721704	1.00[AMR][1000 genomes]
rs72721706	1.00[AMR][1000 genomes]
rs72721708	1.00[AMR][1000 genomes]
rs72721716	1.00[AMR][1000 genomes]
rs72721719	1.00[AMR][1000 genomes]
rs72721721	1.00[AMR][1000 genomes]
rs72721722	1.00[AMR][1000 genomes]
rs72721726	1.00[AMR][1000 genomes]
rs72721728	1.00[AMR][1000 genomes]
rs72721731	1.00[AMR][1000 genomes]
rs72721732	1.00[AMR][1000 genomes]
rs72721733	1.00[AMR][1000 genomes]
rs72721734	1.00[AMR][1000 genomes]
rs72721739	1.00[AMR][1000 genomes]
rs72721745	1.00[AMR][1000 genomes]
rs72721755	1.00[AMR][1000 genomes]
rs72721758	1.00[AMR][1000 genomes]
rs72721759	1.00[AMR][1000 genomes]
rs72721765	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721769	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721795	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721798	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721799	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723710	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723760	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723763	1.00[EUR][1000 genomes]
rs72723765	1.00[EUR][1000 genomes]
rs72723778	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1018404	chr4:151664438-152067409	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1017850	chr4:151664438-152071876	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv2763837	chr4:151664438-152071888	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv870257	chr4:151665349-152072867	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv1015387	chr4:151673751-152071876	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv526976	chr4:151675819-152055073	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv1025077	chr4:151682266-152035733	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	nsv537303	chr4:151682266-152035733	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv949066	chr4:151693149-152069566	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv949002	chr4:151693149-152095109	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
14	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	nsv1031720	chr4:151708502-152071876	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
16	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
17	nsv1031516	chr4:151718614-152065644	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
18	nsv537304	chr4:151718614-152065644	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
19	nsv1022884	chr4:151718814-152065505	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
20	nsv537305	chr4:151718814-152065505	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
21	nsv595689	chr4:151788955-152015704	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
22	nsv595690	chr4:151788955-152109552	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats 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	35 gene(s)	inside rSNPs	diseases
23	nsv1026416	chr4:151847403-152105879	Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
24	nsv1018797	chr4:151913585-152073419	Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
25	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
26	nsv968015	chr4:151987982-152016879	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
27	nsv1016220	chr4:151997139-152164126	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
28	nsv537306	chr4:151997139-152164126	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152005600-152019400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:152009400-152013800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:152009400-152020000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:152012000-152017200	Enhancers	HepG2	liver
5	chr4:152012400-152015000	Enhancers	Duodenum Mucosa	Duodenum
6	chr4:152012400-152015600	Enhancers	Fetal Intestine Large	intestine
7	chr4:152012600-152014400	Enhancers	Stomach Mucosa	stomach
8	chr4:152013200-152013800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr4:152013200-152014600	Enhancers	Fetal Intestine Small	intestine
10	chr4:152013400-152014000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:152013400-152014600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr4:152013600-152014200	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr4:152013600-152014400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:152013600-152014400	Enhancers	HUES48 Cell Line	embryonic stem cell

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