Variant report

Variant	rs72988323
Chromosome Location	chr3:141081632-141081633
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:141058868..141063187-chr3:141079232..141081796,3	K562	blood:
2	chr3:141068265..141070192-chr3:141080636..141083512,2	MCF-7	breast:
3	chr3:141078586..141083082-chr3:141083147..141089245,7	K562	blood:
4	chr3:141078561..141083432-chr3:141083715..141088682,12	MCF-7	breast:
5	chr3:141080039..141082485-chr3:141142226..141143996,2	K562	blood:
6	chr3:141078321..141083296-chr3:141083518..141088899,11	MCF-7	breast:
7	chr3:141079925..141082450-chr3:141119569..141122441,3	MCF-7	breast:
8	chr3:141069302..141073893-chr3:141077867..141081931,7	K562	blood:
9	chr3:141075490..141079205-chr3:141079286..141082614,3	K562	blood:
10	chr3:141050875..141052406-chr3:141079993..141082555,2	MCF-7	breast:
11	chr17:57921417..57923726-chr3:141079950..141082579,2	MCF-7	breast:
12	chr3:141080682..141083394-chr3:141205249..141207411,2	MCF-7	breast:
13	chr3:141074101..141082527-chr3:141083011..141090165,19	K562	blood:
14	chr3:141078410..141082494-chr3:141170544..141172496,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000155903	Chromatin interaction
ENSG00000249417	Chromatin interaction
ENSG00000177311	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs61517763	1.00[AMR][1000 genomes]
rs72986523	1.00[AMR][1000 genomes]
rs72990332	1.00[AMR][1000 genomes]
rs72990347	1.00[AMR][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	nsv829744	chr3:141016749-141189168	Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr3:141065800-141085200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:141077600-141085400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:141080000-141085000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:141080200-141086800	Weak transcription	Fetal Thymus	thymus
5	chr3:141080400-141081800	Enhancers	Osteobl	bone
6	chr3:141080400-141082000	Enhancers	HUVEC	blood vessel
7	chr3:141080400-141084800	Weak transcription	Brain Angular Gyrus	brain
8	chr3:141080400-141084800	Weak transcription	Brain Substantia Nigra	brain
9	chr3:141080400-141084800	Weak transcription	Fetal Heart	heart
10	chr3:141080400-141084800	Weak transcription	Fetal Lung	lung
11	chr3:141080400-141084800	Weak transcription	HSMMtube	muscle
12	chr3:141080400-141085000	Weak transcription	Brain Anterior Caudate	brain
13	chr3:141080400-141085000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr3:141080400-141085200	Weak transcription	Pancreas	Pancrea
15	chr3:141080400-141085400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr3:141080400-141085400	Weak transcription	Brain Hippocampus Middle	brain
17	chr3:141080400-141085400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr3:141080400-141085800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr3:141080600-141084000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:141080600-141084200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:141080600-141084200	Weak transcription	Placenta	Placenta
22	chr3:141080600-141084200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr3:141080600-141084800	Weak transcription	Colonic Mucosa	Colon
24	chr3:141080600-141084800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr3:141080600-141084800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr3:141080600-141085000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr3:141080600-141085200	Weak transcription	Small Intestine	intestine
28	chr3:141080600-141085400	Weak transcription	Aorta	Aorta
29	chr3:141080600-141085400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr3:141080600-141085400	Weak transcription	Ovary	ovary
31	chr3:141080600-141085400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr3:141080600-141086200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:141080800-141082000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:141080800-141083600	Weak transcription	Fetal Intestine Small	intestine
35	chr3:141080800-141083600	Weak transcription	HMEC	breast
36	chr3:141080800-141083600	Weak transcription	K562	blood
37	chr3:141080800-141083600	Weak transcription	NHDF-Ad	bronchial
38	chr3:141080800-141083800	Weak transcription	Hela-S3	cervix
39	chr3:141080800-141084200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:141080800-141084200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:141080800-141084200	Weak transcription	NH-A	brain
42	chr3:141080800-141085000	Weak transcription	Colon Smooth Muscle	Colon
43	chr3:141080800-141085200	Weak transcription	Fetal Kidney	kidney
44	chr3:141080800-141086400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr3:141081000-141081800	Strong transcription	Fetal Intestine Large	intestine
46	chr3:141081000-141081800	Weak transcription	A549	lung
47	chr3:141081200-141081800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:141081400-141082000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr3:141081400-141082000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:141081400-141084000	Weak transcription	NHLF	lung

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