Variant report

Variant	rs73617520
Chromosome Location	chr13:111084259-111084260
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111084230..111086332-chr13:111365214..111367744,2	K562	blood:
2	chr13:111084219..111086647-chr13:111094030..111095986,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134905	Chromatin interaction
ENSG00000153487	Chromatin interaction

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

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

rs_ID	r²[population]
rs57000313	1.00[AMR][1000 genomes]
rs73617587	1.00[AMR][1000 genomes]
rs73619404	1.00[AMR][1000 genomes]
rs73619431	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	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111068000-111107000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:111068400-111088600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:111068600-111086800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr13:111070200-111108400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr13:111070400-111085400	Weak transcription	Psoas Muscle	Psoas
6	chr13:111072000-111085400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr13:111076600-111085000	Strong transcription	Osteobl	bone
8	chr13:111076600-111094600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:111077000-111085000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr13:111077000-111095200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:111077200-111095600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr13:111077400-111094800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr13:111077600-111087800	Strong transcription	HSMM	muscle
14	chr13:111078200-111090600	Weak transcription	Gastric	stomach
15	chr13:111078200-111093400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr13:111078200-111094600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr13:111078200-111095200	Weak transcription	A549	lung
18	chr13:111078200-111099000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr13:111078200-111136800	Weak transcription	Colonic Mucosa	Colon
20	chr13:111078400-111087000	Weak transcription	Pancreas	Pancrea
21	chr13:111078400-111087800	Strong transcription	NH-A	brain
22	chr13:111078400-111093400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr13:111078800-111085400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr13:111079200-111097600	Weak transcription	Fetal Brain Female	brain
25	chr13:111079400-111085400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr13:111079800-111094000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr13:111080000-111094600	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr13:111080600-111088000	Strong transcription	Ovary	ovary
29	chr13:111080600-111094600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr13:111080600-111095800	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr13:111080800-111084600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr13:111080800-111084800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr13:111080800-111094000	Strong transcription	Fetal Intestine Large	intestine
34	chr13:111080800-111094200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr13:111081000-111094200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr13:111081200-111093000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr13:111081400-111094600	Weak transcription	Brain Germinal Matrix	brain
38	chr13:111081600-111087800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr13:111081800-111096600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr13:111082200-111084600	Strong transcription	Aorta	Aorta
41	chr13:111082200-111087400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr13:111082200-111087600	Strong transcription	Fetal Intestine Small	intestine
43	chr13:111082600-111085200	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr13:111082800-111084400	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr13:111082800-111084400	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr13:111082800-111084400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr13:111082800-111084800	Enhancers	Right Atrium	heart
48	chr13:111082800-111086200	Genic enhancers	Left Ventricle	heart
49	chr13:111082800-111087400	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr13:111082800-111087400	Genic enhancers	Fetal Muscle Trunk	muscle

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