Variant report

Variant	rs73978847
Chromosome Location	chr2:189954004-189954005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12614568	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12621913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2882732	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73036538	1.00[EUR][1000 genomes]
rs73978877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv3074	chr2:189931263-189976124	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189895600-189965200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:189896200-189962400	Weak transcription	Left Ventricle	heart
3	chr2:189900800-189964400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:189912400-189961600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:189922800-189980800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:189933000-189960400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:189933000-189980200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:189933800-189957800	Weak transcription	Fetal Intestine Small	intestine
9	chr2:189936600-189969200	Weak transcription	Liver	Liver
10	chr2:189941200-189975000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:189942400-189954200	Weak transcription	Ovary	ovary
12	chr2:189942800-189961800	Weak transcription	Aorta	Aorta
13	chr2:189947200-189961200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:189947400-189958000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:189947600-189961800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:189947600-189980800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:189947800-189957000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:189948200-189957800	Weak transcription	Psoas Muscle	Psoas
19	chr2:189948200-189958000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:189948200-189959200	Weak transcription	Fetal Brain Male	brain
21	chr2:189948200-189980600	Weak transcription	Placenta	Placenta
22	chr2:189948600-189974800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:189950200-189954200	Weak transcription	Fetal Stomach	stomach
24	chr2:189950200-189961600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:189950800-189954200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:189950800-189961400	Weak transcription	Fetal Kidney	kidney
27	chr2:189950800-189977800	Weak transcription	Fetal Intestine Large	intestine
28	chr2:189951000-189954200	Weak transcription	HUVEC	blood vessel
29	chr2:189951600-189954200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:189951800-189961400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:189952000-189956000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:189952000-189961600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:189952200-189956800	Strong transcription	HSMM	muscle
34	chr2:189952400-189956200	Strong transcription	NH-A	brain
35	chr2:189952600-189954400	Genic enhancers	NHDF-Ad	bronchial
36	chr2:189952600-189956000	Strong transcription	Adipose Nuclei	Adipose
37	chr2:189952800-189954800	Strong transcription	Colon Smooth Muscle	Colon
38	chr2:189952800-189955400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:189952800-189957200	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:189953000-189955200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:189953400-189954400	Genic enhancers	Fetal Lung	lung
42	chr2:189953400-189954400	Genic enhancers	NHLF	lung
43	chr2:189953400-189956400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:189953400-189957000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:189953600-189955400	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:189953800-189955600	Strong transcription	Stomach Smooth Muscle	stomach
47	chr2:189953800-189955800	Strong transcription	Osteobl	bone
48	chr2:189953800-189958000	Strong transcription	A549	lung
49	chr2:189954000-189954200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:189954000-189955600	Strong transcription	HSMMtube	muscle

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