Variant report

Variant	rs72721739
Chromosome Location	chr4:151935681-151935682
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:151935388..151937165-chr4:151947344..151949648,2	MCF-7	breast:
2	chr4:151935351..151938924-chr4:152018981..152022393,11	MCF-7	breast:
3	chr4:151932388..151938493-chr4:152018908..152023577,12	K562	blood:
4	chr4:151932388..151938967-chr4:152018772..152026013,16	K562	blood:
5	chr4:151934961..151939391-chr4:152019005..152023866,18	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235606	Chromatin interaction
ENSG00000208797	Chromatin interaction
ENSG00000145425	Chromatin interaction
ENSG00000201264	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs55644104	1.00[AMR][1000 genomes]
rs55752281	1.00[AMR][1000 genomes]
rs56085192	1.00[AMR][1000 genomes]
rs56116539	1.00[AMR][1000 genomes]
rs56241356	1.00[AMR][1000 genomes]
rs56357656	1.00[AMR][1000 genomes]
rs56385344	1.00[AMR][1000 genomes]
rs72719631	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]
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]
rs72721767	1.00[AMR][1000 genomes]
rs72721769	1.00[AMR][1000 genomes]
rs72721789	1.00[AMR][1000 genomes]
rs72721792	1.00[AMR][1000 genomes]
rs72721794	1.00[AMR][1000 genomes]
rs72721795	1.00[AMR][1000 genomes]
rs72721798	1.00[AMR][1000 genomes]
rs72721799	1.00[AMR][1000 genomes]
rs72721801	1.00[AMR][1000 genomes]
rs72721802	1.00[AMR][1000 genomes]
rs72723710	1.00[AMR][1000 genomes]
rs72723728	1.00[AMR][1000 genomes]
rs72723732	1.00[AMR][1000 genomes]
rs72723733	1.00[AMR][1000 genomes]
rs72723739	1.00[AMR][1000 genomes]
rs72723740	1.00[AMR][1000 genomes]
rs72723745	1.00[AMR][1000 genomes]
rs72723747	1.00[AMR][1000 genomes]
rs72723756	1.00[AMR][1000 genomes]
rs72723759	1.00[AMR][1000 genomes]
rs72723760	1.00[AMR][1000 genomes]
rs72723778	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	nsv880576	chr4:151751369-151936149	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
23	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
24	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
25	nsv881254	chr4:151829824-151936149	Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
26	nsv880429	chr4:151844476-151936149	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
27	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
28	nsv461678	chr4:151865522-151980636	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription 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	23 gene(s)	inside rSNPs	diseases
29	nsv595692	chr4:151865522-151980636	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
30	nsv595699	chr4:151880765-151968295	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
31	nsv869553	chr4:151892289-152003402	Enhancers Strong transcription Active TSS Weak transcription Flanking 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	23 gene(s)	inside rSNPs	diseases
32	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151933000-151935800	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr4:151933000-151938000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:151933200-151936000	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr4:151933400-151937600	Active TSS	K562	blood
5	chr4:151933400-151938400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr4:151933600-151935800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr4:151933600-151936000	Flanking Active TSS	Dnd41	blood
8	chr4:151933600-151937400	Active TSS	GM12878-XiMat	blood
9	chr4:151933600-151938000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr4:151933600-151938000	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr4:151933600-151938000	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr4:151933600-151938000	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr4:151933600-151938200	Active TSS	H1 Cell Line	embryonic stem cell
14	chr4:151933600-151938400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr4:151933800-151936000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:151933800-151936200	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr4:151933800-151937400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr4:151933800-151937800	Active TSS	A549	lung
19	chr4:151933800-151938000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:151933800-151938000	Active TSS	Fetal Intestine Large	intestine
21	chr4:151933800-151938200	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr4:151933800-151938200	Active TSS	Fetal Intestine Small	intestine
23	chr4:151934000-151937800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:151934000-151937800	Active TSS	Brain Anterior Caudate	brain
25	chr4:151934000-151938000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:151934000-151938000	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr4:151934000-151938000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr4:151934000-151938000	Active TSS	Fetal Kidney	kidney
29	chr4:151934000-151938000	Active TSS	Fetal Stomach	stomach
30	chr4:151934000-151938000	Active TSS	HMEC	breast
31	chr4:151934000-151938200	Active TSS	H9 Cell Line	embryonic stem cell
32	chr4:151934200-151935800	Flanking Active TSS	HUVEC	blood vessel
33	chr4:151934200-151937800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:151934200-151938000	Active TSS	Rectal Smooth Muscle	rectum
35	chr4:151934400-151936000	Flanking Active TSS	Liver	Liver
36	chr4:151934400-151936200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:151934400-151937800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:151934400-151938200	Active TSS	Hela-S3	cervix
39	chr4:151934600-151936000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:151934600-151937600	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr4:151934600-151937800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:151934600-151937800	Active TSS	Fetal Lung	lung
43	chr4:151934600-151937800	Active TSS	NHEK	skin
44	chr4:151934600-151938000	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr4:151934600-151938200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:151934800-151937200	Active TSS	Fetal Thymus	thymus
47	chr4:151934800-151937800	Active TSS	Thymus	Thymus
48	chr4:151934800-151938000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:151934800-151938000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:151934800-151938000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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