Variant report

Variant	rs73831493
Chromosome Location	chr3:47333548-47333549
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47330452..47333849-chr3:47334869..47338744,4	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs55646108	1.00[AMR][1000 genomes]
rs56401311	1.00[AMR][1000 genomes]
rs57114752	1.00[AMR][1000 genomes]
rs58040348	1.00[AMR][1000 genomes]
rs58558054	1.00[AMR][1000 genomes]
rs58918862	1.00[AMR][1000 genomes]
rs60017851	1.00[AMR][1000 genomes]
rs60054745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60444519	1.00[AMR][1000 genomes]
rs61316433	1.00[AMR][1000 genomes]
rs73831468	1.00[AMR][1000 genomes]
rs73831469	1.00[AMR][1000 genomes]
rs73831471	1.00[AMR][1000 genomes]
rs73831472	1.00[AMR][1000 genomes]
rs73831474	1.00[AMR][1000 genomes]
rs73831477	1.00[AMR][1000 genomes]
rs73831479	1.00[AMR][1000 genomes]
rs73831480	1.00[AMR][1000 genomes]
rs73831481	1.00[AMR][1000 genomes]
rs73831483	1.00[AMR][1000 genomes]
rs73831485	1.00[AMR][1000 genomes]
rs73831488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831496	1.00[AMR][1000 genomes]
rs73831497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831501	1.00[AMR][1000 genomes]
rs73834305	1.00[AMR][1000 genomes]
rs73834308	1.00[AMR][1000 genomes]
rs73834311	1.00[AMR][1000 genomes]
rs73834323	1.00[AMR][1000 genomes]
rs9872793	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1014457	chr3:47222292-47335175	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv536560	chr3:47222292-47335175	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47325400-47361000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:47325600-47334200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:47325600-47334400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:47325600-47334400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:47325600-47337800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:47325600-47338000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:47325600-47344600	Weak transcription	Ovary	ovary
8	chr3:47325600-47367600	Weak transcription	A549	lung
9	chr3:47325800-47337600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr3:47325800-47338000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:47325800-47338200	Weak transcription	HUVEC	blood vessel
12	chr3:47325800-47343800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:47325800-47352000	Weak transcription	Fetal Kidney	kidney
14	chr3:47326200-47336400	Weak transcription	Lung	lung
15	chr3:47326200-47340800	Weak transcription	Fetal Intestine Large	intestine
16	chr3:47326200-47344600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:47326200-47356200	Weak transcription	Fetal Heart	heart
18	chr3:47326200-47356600	Weak transcription	NHDF-Ad	bronchial
19	chr3:47326200-47359600	Weak transcription	Fetal Lung	lung
20	chr3:47326200-47362200	Weak transcription	Gastric	stomach
21	chr3:47326200-47363200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr3:47326400-47338200	Weak transcription	Stomach Mucosa	stomach
23	chr3:47326400-47364400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:47326600-47334200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:47326600-47341200	Weak transcription	Placenta	Placenta
26	chr3:47326600-47351600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:47326800-47333600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:47326800-47356600	Weak transcription	Small Intestine	intestine
29	chr3:47327000-47344400	Weak transcription	Brain Angular Gyrus	brain
30	chr3:47327200-47336600	Strong transcription	Primary T cells from cord blood	blood
31	chr3:47327600-47333600	Strong transcription	Stomach Smooth Muscle	stomach
32	chr3:47327600-47334400	Strong transcription	Fetal Muscle Leg	muscle
33	chr3:47327600-47348400	Weak transcription	Fetal Brain Male	brain
34	chr3:47328200-47333800	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr3:47328400-47334200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:47328400-47364400	Weak transcription	Pancreas	Pancrea
37	chr3:47328600-47333600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr3:47328600-47336600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr3:47328600-47338400	Weak transcription	Colon Smooth Muscle	Colon
40	chr3:47328800-47333800	Strong transcription	Fetal Thymus	thymus
41	chr3:47328800-47336800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr3:47329200-47359800	Weak transcription	NHLF	lung
43	chr3:47329600-47340800	Weak transcription	Fetal Intestine Small	intestine
44	chr3:47330000-47343400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr3:47330400-47337400	Weak transcription	Spleen	Spleen
46	chr3:47330400-47352000	Weak transcription	NHEK	skin
47	chr3:47330400-47356000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:47330600-47336200	Weak transcription	Brain Anterior Caudate	brain
49	chr3:47330600-47346200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:47330600-47359800	Weak transcription	Hela-S3	cervix

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