Variant report

Variant	rs72735692
Chromosome Location	chr1:184444101-184444102
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184442540..184447165-chr1:184447352..184452325,7	K562	blood:
2	chr1:184439360..184441984-chr1:184443023..184445236,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs72737715	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72737728	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184427400-184448400	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:184429000-184454800	Weak transcription	Aorta	Aorta
3	chr1:184429400-184449600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:184430600-184449800	Weak transcription	Right Ventricle	heart
5	chr1:184430600-184450000	Weak transcription	Fetal Stomach	stomach
6	chr1:184431400-184446400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:184431800-184447600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:184433600-184449600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:184438000-184450600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:184439200-184453600	Weak transcription	Fetal Brain Female	brain
11	chr1:184440600-184445800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:184440800-184446200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:184441000-184445000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:184441000-184452000	Weak transcription	Colonic Mucosa	Colon
15	chr1:184441800-184447400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:184442000-184448400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:184442200-184444400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:184442200-184444600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:184442200-184444600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:184442400-184446000	Weak transcription	Fetal Intestine Large	intestine
21	chr1:184442600-184446600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:184442600-184447400	Weak transcription	Left Ventricle	heart
23	chr1:184442800-184446400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:184442800-184446400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:184442800-184447800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:184442800-184449200	Weak transcription	Placenta	Placenta
27	chr1:184442800-184449600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:184443600-184444400	Weak transcription	Fetal Brain Male	brain
29	chr1:184443600-184444600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:184443600-184444600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:184443600-184445200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:184443800-184444200	ZNF genes & repeats	Esophagus	oesophagus
33	chr1:184443800-184444200	Enhancers	Right Atrium	heart
34	chr1:184443800-184444400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:184443800-184444400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
36	chr1:184443800-184444400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
37	chr1:184443800-184444600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:184443800-184444600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
39	chr1:184443800-184446200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:184444000-184444200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:184444000-184444200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:184444000-184444200	ZNF genes & repeats	Lung	lung
43	chr1:184444000-184444200	ZNF genes & repeats	Ovary	ovary
44	chr1:184444000-184444200	ZNF genes & repeats	Pancreas	Pancrea
45	chr1:184444000-184444400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:184444000-184444400	ZNF genes & repeats	NHLF	lung
47	chr1:184444000-184444600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:184444000-184444600	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr1:184444000-184444600	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr1:184444000-184445600	Enhancers	Psoas Muscle	Psoas

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