Variant report

Variant	rs57729501
Chromosome Location	chr1:94286635-94286636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94273349..94275410-chr1:94286366..94287981,2	K562	blood:
2	chr1:94285157..94287017-chr1:94328663..94330459,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11800228	0.83[AMR][1000 genomes]
rs12091446	1.00[AMR][1000 genomes]
rs57108173	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58491053	1.00[AMR][1000 genomes]
rs60890703	1.00[AMR][1000 genomes]
rs72965425	0.83[AMR][1000 genomes]
rs72965494	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72965496	0.87[AFR][1000 genomes];1.00[AMR][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	nsv546822	chr1:94246577-94289863	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv1815663	chr1:94246577-94291252	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1877	chr1:94247756-94292908	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv508415	chr1:94256122-94305339	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv1802380	chr1:94272119-94291252	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv1822452	chr1:94278128-94320233	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
7	esv1003322	chr1:94285785-94294520	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv3319346	chr1:94286364-94293162	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94279600-94302800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:94280000-94290000	Weak transcription	Brain Angular Gyrus	brain
3	chr1:94281200-94289600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:94283000-94288400	Weak transcription	NHDF-Ad	bronchial
5	chr1:94283200-94286800	Weak transcription	HSMMtube	muscle
6	chr1:94283400-94286800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:94283400-94290000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:94283400-94310000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:94283600-94286800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:94283600-94286800	Weak transcription	Right Atrium	heart
11	chr1:94283600-94286800	Weak transcription	HSMM	muscle
12	chr1:94283600-94287800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:94283600-94288400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:94283600-94293400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:94284000-94294600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:94284200-94292200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:94284200-94306200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:94284200-94311200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:94284400-94287400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:94284400-94289600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:94284400-94296000	Weak transcription	Fetal Intestine Small	intestine
22	chr1:94284600-94287000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:94285000-94287000	Weak transcription	HMEC	breast
24	chr1:94285000-94287400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:94285000-94288400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:94285200-94287200	Weak transcription	NHEK	skin
27	chr1:94285400-94288000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:94285600-94287600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:94285600-94287800	Enhancers	H9 Cell Line	embryonic stem cell
30	chr1:94285600-94288800	Enhancers	Placenta	Placenta
31	chr1:94285800-94286800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:94285800-94287200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:94285800-94287600	Enhancers	NH-A	brain
34	chr1:94285800-94287800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:94286000-94286800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr1:94286000-94287000	Enhancers	HUVEC	blood vessel
37	chr1:94286000-94287200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:94286000-94287200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr1:94286000-94287200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr1:94286000-94287600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr1:94286200-94286800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:94286200-94286800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:94286200-94286800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr1:94286400-94286800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr1:94286400-94286800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:94286400-94294800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:94286600-94286800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr1:94286600-94287200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr1:94286600-94287600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr1:94286600-94287600	Enhancers	A549	lung

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