Variant report

Variant	rs7945891
Chromosome Location	chr11:73470094-73470095
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr11:73469932-73470865	MCF10A-Er-Src	breast:	n/a	chr11:73470256-73470263 chr11:73470255-73470265 chr11:73470256-73470264 chr11:73470255-73470265 chr11:73470255-73470265 chr11:73470256-73470264 chr11:73470255-73470265
2	FOS	chr11:73470085-73470785	MCF10A-Er-Src	breast:	n/a	chr11:73470256-73470263 chr11:73470255-73470265 chr11:73470256-73470264 chr11:73470255-73470265 chr11:73470255-73470265 chr11:73470256-73470264 chr11:73470255-73470265
3	RFX5	chr11:73470024-73472873	SK-N-SH	brain:	n/a	chr11:73472384-73472393
4	MXI1	chr11:73470057-73472970	SK-N-SH	brain:	n/a	n/a
5	ZKSCAN1	chr11:73470036-73470956	Hela-S3	cervix:	n/a	n/a
6	HCFC1	chr11:73469159-73472987	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73469206..73473775-chr11:73494297..73499248,5	K562	blood:
2	chr11:73470070..73470855-chr9:22831107..22832031,2	MCF-7	breast:
3	chr11:73466132..73474322-chr11:73488493..73499248,27	K562	blood:
4	chr11:73464912..73467811-chr11:73468593..73470766,3	K562	blood:
5	chr11:73467053..73470222-chr11:73470624..73472339,3	MCF-7	breast:
6	chr11:73461170..73462762-chr11:73468123..73470222,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256034	TF binding region
ENSG00000175581	Chromatin interaction
ENSG00000256034	Chromatin interaction
ENSG00000175582	Chromatin interaction

Extended variants
information (count: 160 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:154)

rs_ID	r²[population]
rs1051090	0.84[AMR][1000 genomes]
rs12786008	0.84[AMR][1000 genomes]
rs12786020	1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs12786118	0.84[AMR][1000 genomes]
rs12786752	0.87[AMR][1000 genomes]
rs12787838	0.87[AMR][1000 genomes]
rs12789142	0.82[JPT][hapmap];0.84[AMR][1000 genomes]
rs12790445	0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs12791140	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12791467	0.84[AMR][1000 genomes]
rs12791617	1.00[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs12791811	0.84[AMR][1000 genomes]
rs12792711	0.84[AMR][1000 genomes]
rs12793053	0.82[AMR][1000 genomes]
rs12793342	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12793550	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12793555	0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs12793757	0.84[AMR][1000 genomes]
rs12793826	0.82[JPT][hapmap];0.84[AMR][1000 genomes]
rs12794180	0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs12795932	0.84[AMR][1000 genomes]
rs12798393	0.84[AMR][1000 genomes]
rs12799377	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12799686	0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs12799745	0.85[JPT][hapmap]
rs12799849	0.84[AMR][1000 genomes]
rs12801268	0.84[AMR][1000 genomes]
rs12801553	1.00[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs12801713	0.84[AMR][1000 genomes]
rs12804010	0.84[AMR][1000 genomes]
rs12804029	0.84[AMR][1000 genomes]
rs12808007	0.84[AMR][1000 genomes]
rs12808395	0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs1641	1.00[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs17132419	0.85[JPT][hapmap]
rs17244692	0.82[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap]
rs17310423	0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs34095255	0.84[AMR][1000 genomes]
rs34217459	0.84[AMR][1000 genomes]
rs34243263	0.84[AMR][1000 genomes]
rs34258880	0.84[AMR][1000 genomes]
rs34302239	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs34308910	0.84[AMR][1000 genomes]
rs34375414	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34433535	0.84[AMR][1000 genomes]
rs34475888	0.84[AMR][1000 genomes]
rs34476415	0.84[AMR][1000 genomes]
rs34550191	0.84[AMR][1000 genomes]
rs34572223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34578576	0.84[AMR][1000 genomes]
rs34659829	0.84[AMR][1000 genomes]
rs34671213	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34771588	0.84[AMR][1000 genomes]
rs34793574	0.84[AMR][1000 genomes]
rs34828254	0.84[AMR][1000 genomes]
rs34840689	0.80[AMR][1000 genomes]
rs34932908	0.84[AMR][1000 genomes]
rs34963286	0.83[AMR][1000 genomes]
rs35066247	0.84[AMR][1000 genomes]
rs35079634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35123949	0.84[AMR][1000 genomes]
rs35130893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35132278	0.83[AMR][1000 genomes]
rs35208638	0.84[AMR][1000 genomes]
rs35235512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35248853	0.84[AMR][1000 genomes]
rs35314844	0.84[AMR][1000 genomes]
rs35320080	0.84[AMR][1000 genomes]
rs35344902	0.84[AMR][1000 genomes]
rs35455701	0.83[AMR][1000 genomes]
rs35481171	0.84[AMR][1000 genomes]
rs35506086	0.84[AMR][1000 genomes]
rs35598792	0.84[AMR][1000 genomes]
rs35640394	0.84[AMR][1000 genomes]
rs35645696	0.84[AMR][1000 genomes]
rs35683504	0.84[AMR][1000 genomes]
rs35741071	0.84[AMR][1000 genomes]
rs35749087	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35820405	0.83[AMR][1000 genomes]
rs35852922	0.84[AMR][1000 genomes]
rs35905244	0.85[CEU][hapmap];0.92[GIH][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs35922896	0.83[AMR][1000 genomes]
rs35937266	0.83[AMR][1000 genomes]
rs35976844	0.84[AMR][1000 genomes]
rs35991676	0.84[AMR][1000 genomes]
rs36004107	0.84[AMR][1000 genomes]
rs36011596	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs36034275	0.84[AMR][1000 genomes]
rs36076594	0.84[AMR][1000 genomes]
rs3758930	1.00[CHD][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs4944850	1.00[YRI][hapmap]
rs55677926	0.84[AMR][1000 genomes]
rs55740271	0.84[AMR][1000 genomes]
rs55788366	0.83[AMR][1000 genomes]
rs55850940	0.84[AMR][1000 genomes]
rs55987259	0.84[AMR][1000 genomes]
rs56159953	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56321536	0.83[AMR][1000 genomes]
rs57736748	0.84[AMR][1000 genomes]
rs58199491	0.84[AMR][1000 genomes]
rs60918915	0.84[AMR][1000 genomes]
rs6592539	0.84[AMR][1000 genomes]
rs6592540	0.84[AMR][1000 genomes]
rs6592541	0.85[GIH][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs7105778	0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs7113309	0.82[CEU][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes]
rs7114340	0.85[JPT][hapmap]
rs7119014	0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs7119242	0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs7122397	0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs7123227	0.85[JPT][hapmap]
rs7123766	0.84[AMR][1000 genomes]
rs7124461	0.84[AMR][1000 genomes]
rs7124674	0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs71464087	0.84[AMR][1000 genomes]
rs71464088	0.87[AMR][1000 genomes]
rs71464089	0.84[AMR][1000 genomes]
rs71464091	0.84[AMR][1000 genomes]
rs71464094	0.80[AMR][1000 genomes]
rs71464096	0.84[AMR][1000 genomes]
rs71464100	0.83[AMR][1000 genomes]
rs71479535	0.83[AMR][1000 genomes]
rs71479536	0.91[EUR][1000 genomes]
rs71479541	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71479550	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71479553	0.84[AMR][1000 genomes]
rs71479554	0.84[AMR][1000 genomes]
rs71479555	0.84[AMR][1000 genomes]
rs71479561	0.84[AMR][1000 genomes]
rs71479562	0.84[AMR][1000 genomes]
rs71479563	0.84[AMR][1000 genomes]
rs71479564	0.84[AMR][1000 genomes]
rs71479565	0.84[AMR][1000 genomes]
rs7924403	0.80[AMR][1000 genomes]
rs7926479	0.85[JPT][hapmap]
rs7926863	0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs7929572	0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs7931475	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7931833	0.84[AMR][1000 genomes]
rs7932786	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932961	0.84[AMR][1000 genomes]
rs7937179	0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs7938019	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7940050	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7940614	1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs7941476	0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs7944702	0.84[AMR][1000 genomes]
rs7944901	0.84[AMR][1000 genomes]
rs7944908	0.84[AMR][1000 genomes]
rs7945614	0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs7946245	0.84[AMR][1000 genomes]
rs7948076	0.84[AMR][1000 genomes]
rs7948192	1.00[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap]
rs7951088	0.85[JPT][hapmap];0.84[AMR][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	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv897912	chr11:73436008-73477045	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv3426251	chr11:73461503-73538032	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7945891	MRPL48	cis	Muscle Skeletal	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73413400-73470800	Weak transcription	Esophagus	oesophagus
2	chr11:73415000-73470200	Weak transcription	Aorta	Aorta
3	chr11:73430800-73470600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:73461600-73470200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr11:73461800-73470200	Weak transcription	Fetal Stomach	stomach
6	chr11:73463600-73470600	Weak transcription	Fetal Thymus	thymus
7	chr11:73463600-73470600	Weak transcription	Thymus	Thymus
8	chr11:73463600-73470800	Weak transcription	Gastric	stomach
9	chr11:73463800-73470600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:73463800-73470600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:73464200-73470200	Weak transcription	Fetal Muscle Leg	muscle
12	chr11:73464200-73470800	Weak transcription	Lung	lung
13	chr11:73464400-73470800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:73465000-73470200	Weak transcription	Ovary	ovary
15	chr11:73465000-73470600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr11:73465000-73470800	Weak transcription	Small Intestine	intestine
17	chr11:73465800-73470200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:73466200-73470800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:73466800-73470800	Weak transcription	Pancreas	Pancrea
20	chr11:73467000-73470200	Weak transcription	Right Ventricle	heart
21	chr11:73467000-73470600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr11:73468000-73470800	Weak transcription	Spleen	Spleen
23	chr11:73468400-73470200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr11:73468400-73470400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:73468400-73471400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:73468600-73470200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr11:73468600-73470200	Weak transcription	Placenta	Placenta
28	chr11:73468600-73470400	Flanking Active TSS	NHEK	skin
29	chr11:73468600-73470600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:73468800-73470200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:73468800-73470200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:73468800-73470200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr11:73468800-73470200	Enhancers	Brain Substantia Nigra	brain
34	chr11:73468800-73470400	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr11:73468800-73470400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:73468800-73470600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr11:73468800-73470600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:73469000-73470200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:73469000-73470400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr11:73469000-73470400	Enhancers	Colon Smooth Muscle	Colon
41	chr11:73469000-73470600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:73469000-73470600	Enhancers	Fetal Heart	heart
43	chr11:73469000-73470600	Weak transcription	Left Ventricle	heart
44	chr11:73469000-73470800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr11:73469000-73472800	Active TSS	GM12878-XiMat	blood
46	chr11:73469200-73470400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr11:73469200-73470600	Flanking Active TSS	HUVEC	blood vessel
48	chr11:73469200-73470800	Active TSS	HepG2	liver
49	chr11:73469200-73472800	Active TSS	H1 Cell Line	embryonic stem cell
50	chr11:73469200-73472800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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