Variant report

Variant	rs10993041
Chromosome Location	chr9:96829678-96829679
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96828132..96830158-chr9:96841662..96844628,2	MCF-7	breast:
2	chr9:96823968..96833120-chr9:96926178..96930731,18	MCF-7	breast:
3	chr9:96829354..96831525-chr9:96932462..96934545,2	K562	blood:
4	chr9:96790753..96794377-chr9:96825453..96830483,4	MCF-7	breast:
5	chr9:96827846..96829961-chr9:96932041..96934679,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158079	Chromatin interaction
ENSG00000269946	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10117457	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10122334	0.87[ASN][1000 genomes]
rs10123954	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10429556	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10429603	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10435922	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10435924	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10739967	0.83[EUR][1000 genomes]
rs10739969	0.87[ASN][1000 genomes]
rs10761308	0.82[EUR][1000 genomes]
rs10761309	0.82[EUR][1000 genomes]
rs10761313	0.87[EUR][1000 genomes]
rs10761315	0.86[ASN][1000 genomes]
rs10821284	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10821285	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10821290	0.82[EUR][1000 genomes]
rs10993037	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12351292	0.83[EUR][1000 genomes]
rs1316814	0.80[EUR][1000 genomes]
rs1331216	0.83[EUR][1000 genomes]
rs1331217	0.83[EUR][1000 genomes]
rs1331218	0.83[EUR][1000 genomes]
rs1331219	0.83[EUR][1000 genomes]
rs1343995	0.80[EUR][1000 genomes]
rs1360429	0.83[EUR][1000 genomes]
rs1411860	0.83[EUR][1000 genomes]
rs1418251	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1576640	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1590969	0.83[EUR][1000 genomes]
rs1592153	0.80[EUR][1000 genomes]
rs1832857	0.80[EUR][1000 genomes]
rs1854835	0.82[EUR][1000 genomes]
rs1933668	0.80[EUR][1000 genomes]
rs1933669	0.80[EUR][1000 genomes]
rs2026917	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2094927	0.83[EUR][1000 genomes]
rs2150625	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2153058	0.80[EUR][1000 genomes]
rs2153070	0.80[EUR][1000 genomes]
rs2211362	0.80[EUR][1000 genomes]
rs2225458	0.83[EUR][1000 genomes]
rs35883789	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3847307	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3996241	0.83[EUR][1000 genomes]
rs4282631	0.83[EUR][1000 genomes]
rs4406469	0.83[EUR][1000 genomes]
rs4744308	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4744310	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4744314	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4744316	0.87[ASN][1000 genomes]
rs6479522	0.80[EUR][1000 genomes]
rs6479529	0.84[ASN][1000 genomes]
rs7033481	0.82[EUR][1000 genomes]
rs7033898	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7045643	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7858069	0.86[EUR][1000 genomes]
rs7867925	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs914295	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs914296	0.82[EUR][1000 genomes]
rs914297	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9299414	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs987511	0.83[EUR][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	nsv893589	chr9:96624645-96884544	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv482457	chr9:96813852-96996170	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	217 gene(s)	inside rSNPs	diseases
3	nsv1043704	chr9:96816552-96873018	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96819000-96833400	Weak transcription	HSMM	muscle
2	chr9:96819400-96832800	Weak transcription	HSMMtube	muscle
3	chr9:96820600-96836400	Weak transcription	Pancreas	Pancrea
4	chr9:96822400-96859800	Weak transcription	Psoas Muscle	Psoas
5	chr9:96822600-96832800	Weak transcription	Primary T cells from cord blood	blood
6	chr9:96824000-96845000	Weak transcription	Right Ventricle	heart
7	chr9:96824200-96832800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:96824200-96836600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:96824200-96860000	Weak transcription	Aorta	Aorta
10	chr9:96824200-96869600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr9:96824400-96846600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:96824400-96850000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:96824600-96831200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr9:96824600-96832800	Weak transcription	Fetal Lung	lung
15	chr9:96824600-96836400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:96824600-96839400	Weak transcription	Left Ventricle	heart
17	chr9:96824600-96844400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr9:96824600-96845400	Weak transcription	Brain Germinal Matrix	brain
19	chr9:96824800-96829800	Weak transcription	Fetal Stomach	stomach
20	chr9:96824800-96832400	Weak transcription	Fetal Muscle Leg	muscle
21	chr9:96824800-96832600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:96824800-96836400	Weak transcription	Fetal Intestine Small	intestine
23	chr9:96825000-96832400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:96825000-96836400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:96825200-96836600	Weak transcription	Lung	lung
26	chr9:96825200-96839800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr9:96825400-96832800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:96825400-96832800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:96827800-96836600	Weak transcription	Ovary	ovary
30	chr9:96828000-96831200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr9:96828200-96830400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr9:96828200-96831200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr9:96828200-96833000	Weak transcription	Adipose Nuclei	Adipose
34	chr9:96828200-96836600	Weak transcription	Brain Angular Gyrus	brain
35	chr9:96828200-96836600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr9:96828200-96847600	Weak transcription	HMEC	breast
37	chr9:96828200-96848400	Weak transcription	Fetal Intestine Large	intestine
38	chr9:96828200-96848600	Weak transcription	Colon Smooth Muscle	Colon
39	chr9:96828200-96859600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr9:96828200-96860800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr9:96828200-96862000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr9:96828200-96868200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr9:96828400-96832400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:96828400-96832400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr9:96828400-96832400	Weak transcription	NH-A	brain
46	chr9:96828400-96832800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr9:96828400-96832800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr9:96828400-96833000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr9:96828400-96833800	Weak transcription	K562	blood
50	chr9:96828400-96835800	Weak transcription	HUVEC	blood vessel

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