Variant report

Variant	rs72720209
Chromosome Location	chr1:95387076-95387077
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12096324	1.00[EUR][1000 genomes]
rs3789707	1.00[EUR][1000 genomes]
rs57516521	1.00[EUR][1000 genomes]
rs60147658	1.00[EUR][1000 genomes]
rs72718271	1.00[EUR][1000 genomes]
rs72720233	1.00[EUR][1000 genomes]
rs72720235	1.00[EUR][1000 genomes]
rs7537099	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv947291	chr1:95382933-95393244	Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95357800-95390800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:95364000-95388600	Weak transcription	Fetal Brain Male	brain
3	chr1:95368400-95388400	Weak transcription	Fetal Intestine Large	intestine
4	chr1:95368400-95390600	Weak transcription	Fetal Thymus	thymus
5	chr1:95369000-95388200	Weak transcription	Fetal Brain Female	brain
6	chr1:95378600-95388600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:95381600-95387400	Weak transcription	Psoas Muscle	Psoas
8	chr1:95383400-95388000	Genic enhancers	Fetal Muscle Leg	muscle
9	chr1:95383400-95388000	Enhancers	Ovary	ovary
10	chr1:95383400-95389400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:95384400-95387400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:95384600-95387200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:95384600-95387400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:95384600-95388000	Enhancers	Adipose Nuclei	Adipose
15	chr1:95384600-95388400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:95384600-95389400	Genic enhancers	HepG2	liver
17	chr1:95384800-95387200	Enhancers	Liver	Liver
18	chr1:95384800-95387600	Enhancers	Brain Cingulate Gyrus	brain
19	chr1:95384800-95388600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:95384800-95389400	Enhancers	Brain Substantia Nigra	brain
21	chr1:95385000-95387200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr1:95385000-95388400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr1:95385200-95387600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:95385200-95388600	Weak transcription	Fetal Intestine Small	intestine
25	chr1:95385400-95387200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:95385400-95387400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:95385400-95387400	Weak transcription	Lung	lung
28	chr1:95385400-95389400	Weak transcription	Colonic Mucosa	Colon
29	chr1:95385600-95388000	Weak transcription	Brain Germinal Matrix	brain
30	chr1:95385600-95388400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:95385600-95388600	Genic enhancers	HUES64 Cell Line	embryonic stem cell
32	chr1:95385600-95388600	Weak transcription	Gastric	stomach
33	chr1:95385600-95389400	Weak transcription	Spleen	Spleen
34	chr1:95385600-95390600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:95385800-95387200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:95385800-95387600	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr1:95385800-95387800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr1:95385800-95387800	Enhancers	Stomach Smooth Muscle	stomach
39	chr1:95386000-95387400	Weak transcription	Right Atrium	heart
40	chr1:95386000-95387400	Weak transcription	Stomach Mucosa	stomach
41	chr1:95386000-95387400	Strong transcription	HUVEC	blood vessel
42	chr1:95386000-95388200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:95386000-95388200	Weak transcription	Placenta	Placenta
44	chr1:95386000-95388200	Weak transcription	Right Ventricle	heart
45	chr1:95386000-95388200	Genic enhancers	Osteobl	bone
46	chr1:95386000-95388400	Weak transcription	Fetal Kidney	kidney
47	chr1:95386000-95388400	Weak transcription	A549	lung
48	chr1:95386000-95389400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:95386000-95389400	Weak transcription	Esophagus	oesophagus
50	chr1:95386200-95387200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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