Variant report

Variant	rs72719631
Chromosome Location	chr4:151738340-151738341
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:151737626..151739902-chr4:151742516..151744812,3	K562	blood:
2	chr4:151737626..151740076-chr4:151741062..151744244,3	K562	blood:
3	chr4:151733486..151735036-chr4:151735497..151738431,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs55644104	1.00[AMR][1000 genomes]
rs55752281	1.00[AMR][1000 genomes]
rs56116539	1.00[AMR][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]
rs72721767	1.00[AMR][1000 genomes]
rs72721769	1.00[AMR][1000 genomes]
rs72736387	1.00[AMR][1000 genomes]
rs72736399	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	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
4	nsv1032070	chr4:151514664-151775259	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151645600-151749000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:151653000-151749200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:151677200-151746000	Weak transcription	Ovary	ovary
4	chr4:151691000-151745600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:151691200-151749200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr4:151691200-151749200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:151692800-151748600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:151704000-151747400	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:151706400-151745800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:151711600-151747400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr4:151711600-151749200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:151712200-151742800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr4:151712800-151742800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr4:151713000-151761200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:151714400-151747200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:151722200-151743600	Weak transcription	Left Ventricle	heart
17	chr4:151723200-151747400	Weak transcription	Fetal Thymus	thymus
18	chr4:151723400-151747000	Weak transcription	Fetal Intestine Small	intestine
19	chr4:151723800-151748000	Weak transcription	Dnd41	blood
20	chr4:151724200-151742800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr4:151724200-151747800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr4:151724400-151739400	Weak transcription	Aorta	Aorta
23	chr4:151724400-151770600	Weak transcription	A549	lung
24	chr4:151724800-151745800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:151724800-151763400	Weak transcription	Esophagus	oesophagus
26	chr4:151725000-151747800	Weak transcription	Brain Angular Gyrus	brain
27	chr4:151725400-151749200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr4:151726600-151749200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr4:151726600-151780400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr4:151727000-151747200	Weak transcription	Fetal Intestine Large	intestine
31	chr4:151727000-151749000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:151727600-151746000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr4:151727600-151747800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr4:151727800-151747600	Weak transcription	HepG2	liver
35	chr4:151728200-151749200	Weak transcription	Pancreas	Pancrea
36	chr4:151728800-151749000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr4:151729200-151744000	Weak transcription	Gastric	stomach
38	chr4:151729600-151747600	Weak transcription	Thymus	Thymus
39	chr4:151731000-151745800	Weak transcription	Lung	lung
40	chr4:151731400-151742800	Weak transcription	Fetal Heart	heart
41	chr4:151731600-151748400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr4:151731600-151749200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:151731800-151747400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr4:151732200-151748800	Weak transcription	Fetal Stomach	stomach
45	chr4:151734400-151743600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:151735000-151738400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr4:151735000-151773000	Weak transcription	Hela-S3	cervix
48	chr4:151735800-151748800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:151736800-151738400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr4:151737200-151738400	Strong transcription	Primary T cells fromperipheralblood	blood

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