Variant report

Variant	rs72743448
Chromosome Location	chr9:96082343-96082344
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96075548..96077378-chr9:96079994..96082442,3	MCF-7	breast:
2	chr9:96072987..96083429-chr9:96209751..96218385,15	MCF-7	breast:
3	chr9:96069284..96071607-chr9:96081119..96082643,2	K562	blood:

Variant related genes	Relation type
ENSG00000165238	Chromatin interaction
ENSG00000188938	Chromatin interaction
ENSG00000048828	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10512233	0.89[EUR][1000 genomes]
rs16909000	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16909005	0.89[EUR][1000 genomes]
rs16909016	0.94[EUR][1000 genomes]
rs16936750	0.84[EUR][1000 genomes]
rs1936403	0.83[ASN][1000 genomes]
rs55692827	0.89[EUR][1000 genomes]
rs55706397	0.89[EUR][1000 genomes]
rs55795421	0.84[EUR][1000 genomes]
rs59491442	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72743433	0.89[EUR][1000 genomes]
rs72743435	0.89[EUR][1000 genomes]
rs72743442	0.84[EUR][1000 genomes]
rs72743443	0.84[EUR][1000 genomes]
rs72743444	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72743445	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72743446	0.89[EUR][1000 genomes]
rs72743449	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72743451	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv893580	chr9:95855100-96099377	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv430082	chr9:95905745-96095045	Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv893582	chr9:95963114-96116937	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv893583	chr9:95996573-96091688	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv893584	chr9:96002983-96116937	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96063800-96088600	Weak transcription	Right Atrium	heart
2	chr9:96066000-96082800	Weak transcription	Fetal Thymus	thymus
3	chr9:96067600-96086800	Weak transcription	Fetal Brain Male	brain
4	chr9:96067800-96086800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr9:96068200-96086200	Weak transcription	Brain Anterior Caudate	brain
6	chr9:96068400-96082400	Weak transcription	Brain Angular Gyrus	brain
7	chr9:96068400-96100400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr9:96068800-96082600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr9:96070600-96087800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr9:96074000-96088600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr9:96076200-96088400	Weak transcription	A549	lung
12	chr9:96077000-96083800	Strong transcription	Duodenum Mucosa	Duodenum
13	chr9:96077000-96085200	Strong transcription	Fetal Brain Female	brain
14	chr9:96079000-96082600	Strong transcription	Fetal Intestine Large	intestine
15	chr9:96079000-96083800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:96079000-96084600	Strong transcription	Fetal Intestine Small	intestine
17	chr9:96079200-96088600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr9:96079600-96094400	Weak transcription	Stomach Mucosa	stomach
19	chr9:96079800-96082400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr9:96080400-96087200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr9:96080400-96090400	Weak transcription	Gastric	stomach
22	chr9:96080800-96082800	Weak transcription	Colon Smooth Muscle	Colon
23	chr9:96080800-96088000	Weak transcription	Right Ventricle	heart
24	chr9:96081000-96082600	Genic enhancers	Brain Germinal Matrix	brain
25	chr9:96081000-96082600	Weak transcription	Pancreas	Pancrea
26	chr9:96081000-96083400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr9:96081000-96086200	Weak transcription	HepG2	liver
28	chr9:96081000-96100600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr9:96081200-96082400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr9:96081200-96083600	Weak transcription	Spleen	Spleen
31	chr9:96081200-96083800	Enhancers	Fetal Heart	heart
32	chr9:96081200-96088000	Weak transcription	Left Ventricle	heart
33	chr9:96081400-96082400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr9:96081600-96082400	Strong transcription	Colonic Mucosa	Colon
35	chr9:96081600-96082600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
36	chr9:96081600-96088000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr9:96081800-96088000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr9:96082000-96082400	Enhancers	Fetal Stomach	stomach
39	chr9:96082000-96082600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chr9:96082000-96083200	Enhancers	Fetal Muscle Leg	muscle
41	chr9:96082000-96083600	Enhancers	Fetal Lung	lung
42	chr9:96082000-96083800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
43	chr9:96082000-96083800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr9:96082200-96083200	Enhancers	Fetal Muscle Trunk	muscle
45	chr9:96082200-96085400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr9:96082200-96086400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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