Variant report

Variant	rs72711954
Chromosome Location	chr1:158041510-158041511
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12135392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55801940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999542	chr1:158015715-158368132	Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1005196	chr1:158015996-158065522	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv523208	chr1:158022217-158088687	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv1003592	chr1:158024499-158061043	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:157997600-158047600	Weak transcription	Dnd41	blood
2	chr1:158001200-158047400	Weak transcription	Thymus	Thymus
3	chr1:158023600-158048800	Weak transcription	A549	lung
4	chr1:158025800-158050000	Weak transcription	Hela-S3	cervix
5	chr1:158029200-158047200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:158030000-158046800	Weak transcription	Fetal Intestine Large	intestine
7	chr1:158034800-158043400	Enhancers	Ovary	ovary
8	chr1:158036200-158048800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:158036400-158042400	Enhancers	Fetal Muscle Leg	muscle
10	chr1:158036600-158049200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:158036800-158042400	Genic enhancers	Fetal Stomach	stomach
12	chr1:158036800-158063600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:158037000-158043000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:158037200-158041800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:158037200-158044200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:158037400-158059200	Weak transcription	Colonic Mucosa	Colon
17	chr1:158037600-158042400	Enhancers	Fetal Brain Male	brain
18	chr1:158037600-158067400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:158037800-158059000	Weak transcription	Pancreas	Pancrea
20	chr1:158038000-158041600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:158038200-158041600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:158038400-158042000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:158038600-158042600	Enhancers	Spleen	Spleen
24	chr1:158038800-158041600	Enhancers	HMEC	breast
25	chr1:158039000-158043000	Weak transcription	HSMMtube	muscle
26	chr1:158039000-158043400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:158039200-158042800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:158039200-158042800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:158039200-158043400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:158039200-158050000	Weak transcription	Right Atrium	heart
31	chr1:158039400-158041800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:158039400-158041800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr1:158039400-158043000	Weak transcription	HSMM	muscle
34	chr1:158039400-158047600	Weak transcription	Aorta	Aorta
35	chr1:158039400-158049600	Weak transcription	HUVEC	blood vessel
36	chr1:158039800-158043600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:158040000-158043400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:158040000-158044800	Weak transcription	Lung	lung
39	chr1:158040000-158071800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:158040200-158041600	Enhancers	Fetal Brain Female	brain
41	chr1:158040400-158041600	Enhancers	Left Ventricle	heart
42	chr1:158040400-158042400	Enhancers	Brain Anterior Caudate	brain
43	chr1:158040400-158042400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr1:158040400-158044400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr1:158040600-158041600	Enhancers	H1 Cell Line	embryonic stem cell
46	chr1:158040800-158041600	Enhancers	Placenta	Placenta
47	chr1:158040800-158041600	Enhancers	Fetal Thymus	thymus
48	chr1:158040800-158042200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:158040800-158043000	Weak transcription	NHEK	skin
50	chr1:158040800-158046200	Weak transcription	Colon Smooth Muscle	Colon

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