Variant report

Variant	rs72961812
Chromosome Location	chr4:151695262-151695263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:151692544..151694147-chr4:151694424..151696071,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs60174971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60675263	0.88[AFR][1000 genomes]
rs60975435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6842028	0.82[AFR][1000 genomes]
rs72959824	0.82[AFR][1000 genomes]
rs72959835	0.86[AFR][1000 genomes]
rs72959853	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72959864	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72959880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72959887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72959891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72959898	0.85[AFR][1000 genomes]
rs72959901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72961810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72961825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72961835	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72961840	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72961842	0.92[AFR][1000 genomes]
rs72961843	0.92[AFR][1000 genomes]
rs72961862	0.90[AFR][1000 genomes]
rs72961863	0.86[AFR][1000 genomes]
rs72961873	0.88[AFR][1000 genomes]
rs72961874	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	nsv869051	chr4:151347901-151737781	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1029861	chr4:151556384-151720601	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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

No data

Chromatin state (count:56 , 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	chr4:151648200-151703000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:151653000-151749200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:151657000-151700600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr4:151668400-151725600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr4:151668800-151720000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr4:151674200-151722600	Weak transcription	Fetal Thymus	thymus
8	chr4:151675200-151695400	Weak transcription	Aorta	Aorta
9	chr4:151677200-151746000	Weak transcription	Ovary	ovary
10	chr4:151679000-151696200	Weak transcription	Gastric	stomach
11	chr4:151680400-151704400	Weak transcription	Brain Substantia Nigra	brain
12	chr4:151682000-151717200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:151683600-151704000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr4:151686600-151737400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:151690400-151698800	Weak transcription	Pancreas	Pancrea
16	chr4:151690600-151696400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:151690600-151704200	Weak transcription	Right Ventricle	heart
18	chr4:151690600-151725600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr4:151691000-151699000	Weak transcription	NHEK	skin
20	chr4:151691000-151745600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:151691200-151695600	Weak transcription	HepG2	liver
22	chr4:151691200-151702400	Weak transcription	Fetal Intestine Small	intestine
23	chr4:151691200-151703200	Weak transcription	HSMM	muscle
24	chr4:151691200-151704000	Weak transcription	Adipose Nuclei	Adipose
25	chr4:151691200-151704200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr4:151691200-151749200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr4:151691200-151749200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr4:151691400-151695800	Weak transcription	Osteobl	bone
29	chr4:151691400-151697800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:151691400-151702400	Weak transcription	Left Ventricle	heart
31	chr4:151691400-151704000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr4:151691400-151731800	Weak transcription	Fetal Stomach	stomach
33	chr4:151691800-151696200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:151692200-151704800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:151692800-151748600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr4:151693000-151703000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr4:151693200-151696200	Enhancers	Fetal Heart	heart
38	chr4:151693400-151696200	Strong transcription	Primary B cells from cord blood	blood
39	chr4:151693800-151697400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr4:151693800-151709600	Weak transcription	Lung	lung
41	chr4:151694200-151703400	Weak transcription	Hela-S3	cervix
42	chr4:151694200-151721400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr4:151694200-151725800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr4:151694400-151696000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:151694400-151703400	Weak transcription	Fetal Muscle Leg	muscle
46	chr4:151694600-151697200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:151694600-151721400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr4:151694600-151726200	Weak transcription	Fetal Intestine Large	intestine
49	chr4:151694600-151729800	Weak transcription	GM12878-XiMat	blood
50	chr4:151694600-151732200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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