Variant report

Variant	rs72683625
Chromosome Location	chr4:129811509-129811510
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	chr4:129810865..129812723-chr4:129812841..129815400,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs72681695	0.85[AMR][1000 genomes]
rs72683603	1.00[AFR][1000 genomes]
rs72683609	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72683619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72683622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv517249	chr4:129738328-129927804	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1026938	chr4:129770961-129936205	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1030513	chr4:129770961-129965026	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv870175	chr4:129771718-129937945	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1026772	chr4:129773881-129936205	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv461637	chr4:129774375-129924977	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv595397	chr4:129774375-129924977	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv461638	chr4:129774375-129927804	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv595398	chr4:129774375-129927804	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv1018994	chr4:129775612-129933968	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv1034996	chr4:129777825-129905255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv537249	chr4:129777825-129905255	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv1022446	chr4:129778025-129905116	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
15	nsv537250	chr4:129778025-129905116	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv1030296	chr4:129778025-129920680	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
17	nsv537251	chr4:129778025-129920680	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
18	esv2830419	chr4:129785483-129905256	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
19	nsv533785	chr4:129785683-129857992	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	n/a
20	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
21	nsv1026722	chr4:129801602-129929219	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	nsv537252	chr4:129801602-129929219	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129793200-129812200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:129793600-129812000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:129793600-129812200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:129793600-129812800	Weak transcription	Spleen	Spleen
5	chr4:129793600-129815400	Weak transcription	Fetal Lung	lung
6	chr4:129793600-129816800	Weak transcription	Lung	lung
7	chr4:129793600-129817200	Weak transcription	Psoas Muscle	Psoas
8	chr4:129793600-129825000	Weak transcription	Ovary	ovary
9	chr4:129793800-129811600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr4:129793800-129907200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:129794000-129813400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:129794000-129814800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:129794200-129812000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr4:129794200-129815000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr4:129794200-129816800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr4:129794200-129824800	Weak transcription	Osteobl	bone
17	chr4:129794200-129829400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:129794400-129823800	Weak transcription	Left Ventricle	heart
19	chr4:129794400-129825600	Weak transcription	Gastric	stomach
20	chr4:129794400-129860200	Weak transcription	Thymus	Thymus
21	chr4:129795000-129824600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr4:129795200-129813400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr4:129795800-129811800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr4:129795800-129812200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:129796800-129813200	Weak transcription	Liver	Liver
26	chr4:129798000-129813800	Weak transcription	NHDF-Ad	bronchial
27	chr4:129798400-129812000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:129798400-129833800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr4:129802200-129815000	Weak transcription	Fetal Intestine Small	intestine
30	chr4:129804600-129813800	Weak transcription	NHLF	lung
31	chr4:129804600-129816400	Weak transcription	Fetal Stomach	stomach
32	chr4:129806000-129816400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:129806800-129812400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:129809400-129811800	Strong transcription	Primary B cells from cord blood	blood
35	chr4:129809800-129811600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:129810000-129811600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr4:129810000-129812200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr4:129810000-129816600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr4:129810000-129816800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr4:129810400-129816200	Weak transcription	Fetal Muscle Leg	muscle
41	chr4:129810400-129816600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr4:129810400-129847200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:129810400-129847400	Weak transcription	Fetal Intestine Large	intestine
44	chr4:129810600-129812200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:129810600-129812200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:129810600-129812200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr4:129810600-129817400	Weak transcription	Adipose Nuclei	Adipose
48	chr4:129810600-129819000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr4:129810600-129847200	Weak transcription	Dnd41	blood
50	chr4:129810800-129816600	Weak transcription	Fetal Thymus	thymus

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