Variant report

Variant	rs72928930
Chromosome Location	chr2:85996428-85996429
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85995337..85997377-chr2:86000338..86004148,3	K562	blood:
2	chr2:85989917..85993093-chr2:85993435..85996690,4	MCF-7	breast:
3	chr2:85995032..85998218-chr2:85998499..86001360,4	MCF-7	breast:
4	chr2:85984055..85985745-chr2:85996353..85999669,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATOH8-3	chr2:85995837-85997833	l_1877_chr2:85969788-85975170_thyroid

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10205074	1.00[EUR][1000 genomes]
rs13429794	1.00[EUR][1000 genomes]
rs1370543	1.00[EUR][1000 genomes]
rs1370544	1.00[EUR][1000 genomes]
rs1518988	1.00[EUR][1000 genomes]
rs2001594	1.00[EUR][1000 genomes]
rs2049016	1.00[EUR][1000 genomes]
rs56790095	1.00[EUR][1000 genomes]
rs59512984	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60869707	1.00[EUR][1000 genomes]
rs60990198	1.00[EUR][1000 genomes]
rs6707971	1.00[EUR][1000 genomes]
rs6727176	1.00[EUR][1000 genomes]
rs72928918	1.00[EUR][1000 genomes]
rs72928927	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928931	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928938	1.00[EUR][1000 genomes]
rs72928941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928948	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930750	1.00[EUR][1000 genomes]
rs72930775	1.00[AMR][1000 genomes]
rs7605132	1.00[EUR][1000 genomes]
rs7608987	1.00[EUR][1000 genomes]
rs934776	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic 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	6 gene(s)	inside rSNPs	diseases
2	nsv1012593	chr2:85966323-85997189	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv1001792	chr2:85983107-86016722	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv535805	chr2:85983107-86016722	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
8	nsv535806	chr2:85990408-86007918	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85987000-85998400	Genic enhancers	Muscle Satellite Cultured Cells	--
2	chr2:85988600-86000000	Enhancers	Right Atrium	heart
3	chr2:85990800-85999800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr2:85991000-85997600	Genic enhancers	Lung	lung
5	chr2:85991000-85997800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:85991200-86000000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr2:85992800-85997200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:85993000-85997000	Genic enhancers	HSMM	muscle
9	chr2:85993400-85998200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:85993400-86000000	Enhancers	Psoas Muscle	Psoas
11	chr2:85993800-85997200	Genic enhancers	Right Ventricle	heart
12	chr2:85993800-85998000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:85994000-85998600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr2:85994000-86000400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:85994200-86000000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:85994400-85998600	Genic enhancers	Fetal Lung	lung
17	chr2:85994400-85999000	Enhancers	Left Ventricle	heart
18	chr2:85994800-85997000	Genic enhancers	Aorta	Aorta
19	chr2:85994800-85997400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:85994800-85998800	Enhancers	HSMMtube	muscle
21	chr2:85994800-86002200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:85995000-85996800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:85995000-85996800	Enhancers	Gastric	stomach
24	chr2:85995000-85997000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:85995000-85997400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:85995000-85997800	Genic enhancers	Fetal Stomach	stomach
27	chr2:85995000-85998800	Enhancers	Brain Hippocampus Middle	brain
28	chr2:85995000-85999000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:85995000-85999000	Enhancers	Colonic Mucosa	Colon
30	chr2:85995200-85997600	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr2:85995200-85998200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr2:85995200-85998400	Enhancers	Spleen	Spleen
33	chr2:85995200-85999000	Enhancers	Fetal Muscle Leg	muscle
34	chr2:85995200-85999200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:85995200-85999800	Enhancers	NHDF-Ad	bronchial
36	chr2:85995200-86000600	Enhancers	Pancreas	Pancrea
37	chr2:85995400-85996600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:85995400-85996800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:85995400-85996800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr2:85995400-85996800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:85995400-85997000	Enhancers	Brain Cingulate Gyrus	brain
42	chr2:85995400-85997400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr2:85995400-85997400	Enhancers	Stomach Mucosa	stomach
44	chr2:85995400-85997800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr2:85995400-85998000	Enhancers	H1 Cell Line	embryonic stem cell
46	chr2:85995400-85998000	Genic enhancers	Fetal Intestine Small	intestine
47	chr2:85995400-85998000	Enhancers	Rectal Smooth Muscle	rectum
48	chr2:85995400-85999000	Enhancers	Brain Germinal Matrix	brain
49	chr2:85995600-85996800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:85995600-85997000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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