Variant report

Variant	rs73234681
Chromosome Location	chr13:80066168-80066169
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:80061240..80063310-chr13:80064486..80066624,3	K562	blood:
2	chr13:80054534..80056612-chr13:80065501..80067277,2	MCF-7	breast:
3	chr13:80063503..80065640-chr13:80065674..80068573,2	MCF-7	breast:
4	chr13:80054213..80059626-chr13:80061919..80068879,9	K562	blood:
5	chr13:80056153..80058862-chr13:80062367..80066425,4	K562	blood:

Variant related genes	Relation type
ENSG00000102471	Chromatin interaction
ENSG00000232132	Chromatin interaction

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

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

rs_ID	r²[population]
rs60194813	1.00[ASN][1000 genomes]
rs73235973	0.85[AMR][1000 genomes]
rs73235985	0.84[AMR][1000 genomes]
rs73562539	1.00[ASN][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	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80056200-80066400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:80056200-80066600	Weak transcription	Psoas Muscle	Psoas
3	chr13:80056200-80077400	Weak transcription	Right Ventricle	heart
4	chr13:80057000-80066200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:80059000-80077200	Weak transcription	Small Intestine	intestine
6	chr13:80059400-80066400	Weak transcription	Fetal Thymus	thymus
7	chr13:80059600-80066200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:80059600-80066600	Weak transcription	Brain Angular Gyrus	brain
9	chr13:80059600-80068800	Weak transcription	Brain Substantia Nigra	brain
10	chr13:80060000-80075600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr13:80061000-80066400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr13:80061200-80071200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr13:80062000-80075800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr13:80063400-80067000	Enhancers	Fetal Heart	heart
15	chr13:80063400-80077200	Weak transcription	K562	blood
16	chr13:80063600-80066800	Weak transcription	Brain Hippocampus Middle	brain
17	chr13:80063600-80067600	Enhancers	Duodenum Mucosa	Duodenum
18	chr13:80063800-80066800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr13:80064000-80066800	Enhancers	Stomach Mucosa	stomach
20	chr13:80064200-80066800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr13:80064200-80066800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr13:80064200-80067000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr13:80064400-80066400	Weak transcription	Lung	lung
24	chr13:80064400-80066600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:80064400-80066600	Enhancers	NHLF	lung
26	chr13:80064400-80066800	Enhancers	Fetal Stomach	stomach
27	chr13:80064400-80066800	Weak transcription	GM12878-XiMat	blood
28	chr13:80064600-80066200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr13:80064600-80066400	Weak transcription	Left Ventricle	heart
30	chr13:80064600-80067000	Enhancers	Colon Smooth Muscle	Colon
31	chr13:80064600-80067200	Enhancers	NH-A	brain
32	chr13:80064600-80067400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr13:80064600-80069000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr13:80064600-80069000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr13:80064800-80066200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr13:80064800-80066400	Weak transcription	Pancreas	Pancrea
37	chr13:80064800-80066600	Weak transcription	Esophagus	oesophagus
38	chr13:80064800-80066600	Weak transcription	Right Atrium	heart
39	chr13:80064800-80066600	Flanking Active TSS	A549	lung
40	chr13:80064800-80067000	Enhancers	NHDF-Ad	bronchial
41	chr13:80064800-80067200	Enhancers	HSMM	muscle
42	chr13:80064800-80069000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr13:80064800-80069000	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr13:80064800-80069800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr13:80064800-80084800	Weak transcription	Fetal Intestine Small	intestine
46	chr13:80065000-80066200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr13:80065000-80066400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr13:80065000-80066600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr13:80065000-80066600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr13:80065000-80067000	Weak transcription	Rectal Smooth Muscle	rectum

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