Variant report

Variant	rs73080642
Chromosome Location	chr3:51721882-51721883
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	chr3:51720494..51723268-chr3:52015947..52017877,2	K562	blood:

Variant related genes	Relation type
ENSG00000114779	Chromatin interaction
ENSG00000243989	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2518461	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][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	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	esv1814919	chr3:51703488-51752684	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51706400-51733400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:51706400-51741000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:51706600-51724600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:51706600-51739600	Weak transcription	Small Intestine	intestine
5	chr3:51707800-51740400	Strong transcription	Fetal Intestine Small	intestine
6	chr3:51708800-51738800	Strong transcription	Fetal Intestine Large	intestine
7	chr3:51714000-51722400	Enhancers	Right Atrium	heart
8	chr3:51714400-51722200	Genic enhancers	Fetal Muscle Leg	muscle
9	chr3:51714400-51722400	Genic enhancers	Fetal Muscle Trunk	muscle
10	chr3:51716200-51726200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr3:51716200-51737000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:51716400-51722600	Genic enhancers	Primary B cells from peripheral blood	blood
13	chr3:51716400-51741200	Weak transcription	Fetal Kidney	kidney
14	chr3:51716600-51722600	Strong transcription	HepG2	liver
15	chr3:51716600-51722800	Genic enhancers	Spleen	Spleen
16	chr3:51716600-51724800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr3:51716800-51726600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:51716800-51738800	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr3:51717000-51727400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:51717400-51739800	Strong transcription	Liver	Liver
21	chr3:51717600-51723800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:51717800-51722800	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr3:51717800-51725200	Strong transcription	Gastric	stomach
24	chr3:51718000-51722400	Strong transcription	Brain Germinal Matrix	brain
25	chr3:51718000-51722800	Strong transcription	Placenta Amnion	Placenta Amnion
26	chr3:51718000-51726800	Strong transcription	Pancreas	Pancrea
27	chr3:51718400-51722600	Strong transcription	Aorta	Aorta
28	chr3:51718600-51722400	Strong transcription	Rectal Smooth Muscle	rectum
29	chr3:51719000-51722400	Enhancers	Left Ventricle	heart
30	chr3:51719400-51722000	Enhancers	Primary hematopoietic stem cells	blood
31	chr3:51719600-51722000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:51719600-51722000	Genic enhancers	Brain Inferior Temporal Lobe	brain
33	chr3:51719600-51726000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:51719600-51741200	Weak transcription	NHDF-Ad	bronchial
35	chr3:51719800-51722000	Enhancers	HSMMtube	muscle
36	chr3:51719800-51722200	Genic enhancers	HMEC	breast
37	chr3:51719800-51722800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr3:51719800-51724000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:51719800-51732400	Weak transcription	Hela-S3	cervix
40	chr3:51720000-51722000	Enhancers	NH-A	brain
41	chr3:51720000-51722200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr3:51720000-51722400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr3:51720000-51722400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:51720000-51733200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:51720200-51722000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:51720200-51722000	Enhancers	Osteobl	bone
47	chr3:51720200-51722200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:51720200-51722400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:51720200-51722400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:51720200-51722400	Genic enhancers	Brain Angular Gyrus	brain

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