Variant report

Variant	rs72743431
Chromosome Location	chr9:96030748-96030749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:95894565..95896559-chr9:96029848..96032324,3	MCF-7	breast:
2	chr9:96029425..96032185-chr9:96033785..96035913,2	K562	blood:

Variant related genes	Relation type
ENSG00000131669	Chromatin interaction

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

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

rs_ID	r²[population]
rs10122466	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10512233	0.92[AMR][1000 genomes]
rs16909000	0.91[AMR][1000 genomes]
rs16909005	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16909016	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16936750	0.85[AMR][1000 genomes]
rs1891971	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1891972	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1891973	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1936403	0.83[AMR][1000 genomes]
rs1970622	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4744197	0.83[AMR][1000 genomes]
rs4744205	0.97[ASN][1000 genomes]
rs55692827	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55706397	1.00[AMR][1000 genomes]
rs55795421	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6479467	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7029968	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72743433	1.00[AMR][1000 genomes]
rs72743435	1.00[AMR][1000 genomes]
rs72743442	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72743443	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72743444	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72743445	0.92[ASN][1000 genomes]
rs72743449	0.82[ASN][1000 genomes]
rs72743451	0.83[AMR][1000 genomes]
rs7859604	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7859628	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7871272	0.92[AMR][1000 genomes];0.88[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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96005400-96033800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:96006200-96043800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:96011200-96032800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:96011200-96033400	Weak transcription	A549	lung
5	chr9:96012800-96032600	Weak transcription	Fetal Brain Male	brain
6	chr9:96013000-96031400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr9:96014000-96033800	Strong transcription	Stomach Smooth Muscle	stomach
8	chr9:96014400-96032800	Strong transcription	Fetal Brain Female	brain
9	chr9:96017400-96033200	Weak transcription	Brain Substantia Nigra	brain
10	chr9:96018400-96033200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr9:96022600-96030800	Enhancers	Fetal Thymus	thymus
12	chr9:96024200-96033600	Strong transcription	Fetal Stomach	stomach
13	chr9:96024400-96031600	Strong transcription	HepG2	liver
14	chr9:96025400-96035600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr9:96025600-96041200	Weak transcription	Psoas Muscle	Psoas
16	chr9:96026200-96033200	Strong transcription	Brain Germinal Matrix	brain
17	chr9:96026400-96031400	Strong transcription	Rectal Smooth Muscle	rectum
18	chr9:96027000-96036800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr9:96027200-96035200	Weak transcription	Brain Hippocampus Middle	brain
20	chr9:96027200-96051200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr9:96027200-96056000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr9:96027200-96061000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr9:96027600-96032800	Weak transcription	Placenta	Placenta
24	chr9:96028200-96031200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr9:96028600-96033000	Weak transcription	Small Intestine	intestine
26	chr9:96028600-96036200	Weak transcription	Fetal Heart	heart
27	chr9:96029000-96031400	Genic enhancers	Pancreas	Pancrea
28	chr9:96029200-96031200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr9:96029200-96032200	Genic enhancers	Duodenum Mucosa	Duodenum
30	chr9:96029200-96033600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:96029200-96033600	Enhancers	Dnd41	blood
32	chr9:96029200-96033800	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr9:96029400-96031200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr9:96029400-96031600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:96029600-96030800	Enhancers	Primary B cells from peripheral blood	blood
36	chr9:96029600-96031600	Enhancers	Esophagus	oesophagus
37	chr9:96029600-96031800	Strong transcription	Right Ventricle	heart
38	chr9:96029600-96032000	Genic enhancers	Rectal Mucosa Donor 31	rectum
39	chr9:96029800-96030800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr9:96029800-96030800	Genic enhancers	Spleen	Spleen
41	chr9:96029800-96031400	Genic enhancers	Colonic Mucosa	Colon
42	chr9:96029800-96032600	Strong transcription	Brain Cingulate Gyrus	brain
43	chr9:96029800-96033400	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr9:96029800-96033600	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr9:96030000-96033000	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr9:96030000-96033600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr9:96030200-96030800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr9:96030200-96030800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr9:96030200-96031000	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr9:96030200-96031000	Enhancers	Primary T helper cells fromperipheralblood	blood

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