Variant report

Variant	rs72688415
Chromosome Location	chr4:99273865-99273866
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17561798	1.00[EUR][1000 genomes]
rs72686498	0.84[EUR][1000 genomes]
rs72688419	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1004616	chr4:99085875-99308901	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2763801	chr4:99094892-99413853	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv879651	chr4:99105055-99441349	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv879652	chr4:99125659-99303633	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong 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	11 gene(s)	inside rSNPs	diseases
8	nsv999097	chr4:99271563-99304326	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1012360	chr4:99271563-99308481	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99212400-99287800	Weak transcription	Thymus	Thymus
2	chr4:99215000-99317000	Weak transcription	Left Ventricle	heart
3	chr4:99223800-99288000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr4:99252400-99287400	Weak transcription	Aorta	Aorta
5	chr4:99254400-99286400	Weak transcription	Ovary	ovary
6	chr4:99256200-99287200	Weak transcription	Right Ventricle	heart
7	chr4:99256600-99286000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:99256800-99286400	Weak transcription	Fetal Intestine Small	intestine
9	chr4:99258400-99274000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:99258800-99286000	Weak transcription	Pancreas	Pancrea
11	chr4:99259200-99275800	Weak transcription	K562	blood
12	chr4:99260800-99276600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:99262600-99287000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:99262800-99276800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr4:99262800-99286000	Weak transcription	Primary T cells from cord blood	blood
16	chr4:99262800-99286400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr4:99262800-99286600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:99262800-99290600	Weak transcription	NH-A	brain
19	chr4:99262800-99295600	Weak transcription	Brain Hippocampus Middle	brain
20	chr4:99262800-99333400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:99263000-99296000	Weak transcription	Brain Angular Gyrus	brain
22	chr4:99263200-99288600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr4:99263600-99274000	Weak transcription	Adipose Nuclei	Adipose
24	chr4:99263600-99274600	Weak transcription	Brain Germinal Matrix	brain
25	chr4:99263600-99276800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr4:99263800-99287200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr4:99264000-99287000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr4:99264200-99338200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr4:99264600-99288000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr4:99265200-99286200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:99265200-99297800	Weak transcription	Osteobl	bone
32	chr4:99265400-99287600	Weak transcription	HSMMtube	muscle
33	chr4:99265400-99298400	Weak transcription	NHDF-Ad	bronchial
34	chr4:99265600-99276800	Weak transcription	Fetal Lung	lung
35	chr4:99266200-99287400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr4:99266800-99283400	Weak transcription	HSMM	muscle
37	chr4:99267400-99276600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr4:99267400-99284200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:99267600-99274000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:99267600-99284200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:99267600-99284200	Weak transcription	NHEK	skin
42	chr4:99267600-99286000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:99267600-99286200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr4:99267800-99286000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr4:99268200-99276400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr4:99268400-99286000	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr4:99269000-99275600	Weak transcription	GM12878-XiMat	blood
48	chr4:99269000-99286000	Weak transcription	Fetal Muscle Leg	muscle
49	chr4:99269000-99286800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr4:99271600-99314800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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