Variant report

Variant	rs72658238
Chromosome Location	chr4:86746040-86746041
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11942119	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12499386	0.92[ASN][1000 genomes]
rs12500124	0.92[ASN][1000 genomes]
rs12504839	0.93[ASN][1000 genomes]
rs12504871	0.93[ASN][1000 genomes]
rs12512001	0.93[ASN][1000 genomes]
rs17010960	0.92[ASN][1000 genomes]
rs17011016	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17011065	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17011069	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs345364	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs345365	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs345370	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4693742	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4693743	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4693744	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66596399	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66681569	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67579023	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67631333	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67886916	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv879518	chr4:86739805-86778943	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv830000	chr4:86745341-86909059	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86728200-86747200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:86729400-86747400	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:86736200-86748600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr4:86737600-86763200	Weak transcription	Primary B cells from cord blood	blood
5	chr4:86740200-86747000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:86740200-86747200	Weak transcription	Fetal Lung	lung
7	chr4:86740200-86748600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:86740200-86748800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:86741800-86747200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:86743200-86748800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:86743600-86747200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:86743800-86747200	Weak transcription	Aorta	Aorta
13	chr4:86744200-86748600	Enhancers	Fetal Heart	heart
14	chr4:86744200-86748600	Enhancers	HSMM	muscle
15	chr4:86744400-86747000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr4:86744400-86747400	Enhancers	Fetal Kidney	kidney
17	chr4:86744600-86747000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr4:86744600-86748200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr4:86744600-86748600	Enhancers	Adipose Nuclei	Adipose
20	chr4:86744800-86746400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr4:86744800-86746400	Weak transcription	Fetal Intestine Small	intestine
22	chr4:86744800-86747200	Weak transcription	Spleen	Spleen
23	chr4:86744800-86747400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:86744800-86747400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:86744800-86747400	Weak transcription	Brain Germinal Matrix	brain
26	chr4:86744800-86748600	Weak transcription	Pancreas	Pancrea
27	chr4:86745000-86746400	Weak transcription	Fetal Muscle Leg	muscle
28	chr4:86745000-86747000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:86745000-86747200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr4:86745000-86747200	Weak transcription	Gastric	stomach
31	chr4:86745000-86747200	Weak transcription	Left Ventricle	heart
32	chr4:86745000-86747200	Weak transcription	Right Atrium	heart
33	chr4:86745000-86747200	Weak transcription	Small Intestine	intestine
34	chr4:86745000-86747400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:86745000-86747400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr4:86745000-86747400	Weak transcription	Right Ventricle	heart
37	chr4:86745400-86746600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr4:86745600-86746800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:86745600-86747000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr4:86745600-86747400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr4:86745600-86748600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:86745600-86749400	Enhancers	HUVEC	blood vessel
43	chr4:86745800-86746800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr4:86745800-86746800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr4:86745800-86747000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:86745800-86747000	Weak transcription	HSMMtube	muscle
47	chr4:86745800-86747000	Weak transcription	Osteobl	bone
48	chr4:86745800-86747200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:86745800-86747200	Weak transcription	Stomach Mucosa	stomach
50	chr4:86745800-86747200	Enhancers	Stomach Smooth Muscle	stomach

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