Variant report

Variant	rs10992702
Chromosome Location	chr9:96072861-96072862
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96065577..96067663-chr9:96072266..96075048,2	K562	blood:
2	chr9:96071537..96077428-chr9:96212026..96217506,11	MCF-7	breast:
3	chr9:96067941..96071129-chr9:96072035..96075014,3	MCF-7	breast:
4	chr9:95856938..95860270-chr9:96071224..96075475,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165238	Chromatin interaction
ENSG00000165233	Chromatin interaction
ENSG00000048828	Chromatin interaction
ENSG00000188938	Chromatin interaction
ENSG00000223446	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10761203	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10821095	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10821098	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10992698	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12341303	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12684394	0.94[ASN][1000 genomes]
rs1317698	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13292831	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13293217	0.92[ASN][1000 genomes]
rs1544229	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16936753	0.81[ASN][1000 genomes]
rs2086103	0.93[ASN][1000 genomes]
rs2306183	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2398822	0.88[ASN][1000 genomes]
rs3001450	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3001451	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35795732	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3763634	0.93[ASN][1000 genomes]
rs3763635	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3793546	0.90[ASN][1000 genomes]
rs4743911	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4744192	0.83[EUR][1000 genomes]
rs4744195	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4744201	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4744206	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4744212	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4744215	0.92[ASN][1000 genomes]
rs7868971	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs944993	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96033400-96077200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:96055600-96080200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr9:96056400-96079800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr9:96061400-96075000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr9:96061600-96079000	Weak transcription	Gastric	stomach
6	chr9:96063800-96088600	Weak transcription	Right Atrium	heart
7	chr9:96065000-96079200	Weak transcription	Colonic Mucosa	Colon
8	chr9:96065200-96080000	Weak transcription	Spleen	Spleen
9	chr9:96065400-96073200	Strong transcription	Fetal Intestine Small	intestine
10	chr9:96066000-96082800	Weak transcription	Fetal Thymus	thymus
11	chr9:96067200-96081200	Weak transcription	Fetal Heart	heart
12	chr9:96067400-96074200	Weak transcription	HepG2	liver
13	chr9:96067600-96073600	Strong transcription	Fetal Intestine Large	intestine
14	chr9:96067600-96079200	Weak transcription	Right Ventricle	heart
15	chr9:96067600-96086800	Weak transcription	Fetal Brain Male	brain
16	chr9:96067800-96086800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr9:96068200-96086200	Weak transcription	Brain Anterior Caudate	brain
18	chr9:96068400-96082400	Weak transcription	Brain Angular Gyrus	brain
19	chr9:96068400-96100400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr9:96068600-96073800	Strong transcription	Fetal Brain Female	brain
21	chr9:96068600-96079200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr9:96068600-96080200	Weak transcription	Left Ventricle	heart
23	chr9:96068800-96080800	Weak transcription	Psoas Muscle	Psoas
24	chr9:96068800-96082600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr9:96069200-96079400	Weak transcription	Fetal Muscle Leg	muscle
26	chr9:96069400-96079600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr9:96069400-96080000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr9:96070000-96075000	Weak transcription	Colon Smooth Muscle	Colon
29	chr9:96070200-96073600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:96070600-96073000	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr9:96070600-96075000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr9:96070600-96087800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr9:96070800-96077200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr9:96071400-96074600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr9:96071400-96075000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:96071400-96078800	Weak transcription	Brain Germinal Matrix	brain
37	chr9:96071400-96079000	Weak transcription	Fetal Stomach	stomach
38	chr9:96072200-96073600	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr9:96072400-96073200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
40	chr9:96072600-96074800	Weak transcription	Pancreas	Pancrea
41	chr9:96072600-96079000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr9:96072800-96074000	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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