Variant report

Variant	rs73489638
Chromosome Location	chr11:66127639-66127640
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65985337..65987041-chr11:66126472..66128727,2	K562	blood:
2	chr11:66044854..66050210-chr11:66125615..66133270,8	MCF-7	breast:
3	chr11:66110359..66118130-chr11:66126104..66133540,18	MCF-7	breast:
4	chr11:66085245..66088151-chr11:66126430..66129737,4	MCF-7	breast:
5	chr11:66079424..66080992-chr11:66126584..66128336,2	K562	blood:
6	chr11:66103854..66118324-chr11:66119048..66141728,55	K562	blood:

Variant related genes	Relation type
ENSG00000174744	Chromatin interaction
ENSG00000174684	Chromatin interaction
ENSG00000254458	Chromatin interaction
ENSG00000174871	Chromatin interaction
ENSG00000174791	Chromatin interaction
ENSG00000245156	Chromatin interaction
ENSG00000255468	Chromatin interaction
ENSG00000254452	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1039594	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1047029	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10750784	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10791869	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10791872	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10791874	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10791876	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10896111	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10896112	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896115	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10896116	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227465	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11601396	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11823140	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12416747	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12576293	0.83[ASN][1000 genomes]
rs12576299	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12577196	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12785321	0.86[EUR][1000 genomes]
rs12785651	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12786563	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12794121	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546358	0.88[EUR][1000 genomes]
rs1784029	0.86[EUR][1000 genomes]
rs1785633	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1785639	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1892940	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2236679	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2279861	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2279862	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2282530	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2282531	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3016767	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3177514	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34043951	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4244813	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930177	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4930178	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930179	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4930181	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4930360	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4930362	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4930363	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4930366	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4930368	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55998145	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56123976	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56321771	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61891449	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6591213	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6591215	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6591217	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66810040	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67780191	0.81[ASN][1000 genomes]
rs7104253	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7104570	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7105015	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7105401	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7107191	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7110944	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7117630	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7126018	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7938676	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7939111	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7940980	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs905770	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs947978	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73489638	RIN1	cis	Whole Blood	GTEx

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66116000-66129400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr11:66116000-66129600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:66116000-66129600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:66116000-66134400	Weak transcription	Left Ventricle	heart
5	chr11:66116000-66135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:66116000-66137200	Weak transcription	Fetal Kidney	kidney
7	chr11:66116000-66138400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:66116000-66138400	Weak transcription	Brain Hippocampus Middle	brain
9	chr11:66116000-66138400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:66116000-66138400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr11:66116200-66128800	Weak transcription	Fetal Muscle Leg	muscle
12	chr11:66116200-66128800	Weak transcription	Fetal Thymus	thymus
13	chr11:66116200-66129200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:66116200-66129200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:66116200-66129600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:66116200-66129600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:66116200-66129800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:66116200-66130000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:66116200-66130200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:66116200-66137000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:66116200-66137400	Weak transcription	Brain Angular Gyrus	brain
22	chr11:66116200-66137400	Weak transcription	Brain Anterior Caudate	brain
23	chr11:66116200-66137800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr11:66116200-66138400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr11:66116400-66127800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:66116400-66128000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:66116600-66129000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr11:66116600-66129400	Weak transcription	Fetal Lung	lung
29	chr11:66116800-66129200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:66116800-66130600	Weak transcription	Adipose Nuclei	Adipose
31	chr11:66116800-66137200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr11:66116800-66137400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr11:66116800-66138400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr11:66117000-66130200	Weak transcription	Spleen	Spleen
35	chr11:66117000-66132800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:66117000-66138200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr11:66119000-66137800	Weak transcription	A549	lung
38	chr11:66121200-66129000	Weak transcription	Pancreas	Pancrea
39	chr11:66121400-66138400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr11:66121800-66129600	Weak transcription	Colonic Mucosa	Colon
41	chr11:66121800-66130200	Weak transcription	Thymus	Thymus
42	chr11:66121800-66138400	Weak transcription	Primary B cells from cord blood	blood
43	chr11:66122000-66129000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:66122000-66129600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr11:66122000-66130400	Weak transcription	Stomach Mucosa	stomach
46	chr11:66122000-66137400	Strong transcription	Fetal Intestine Small	intestine
47	chr11:66122200-66128200	Weak transcription	Fetal Brain Female	brain
48	chr11:66122200-66128800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr11:66122200-66129800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:66122200-66130000	Weak transcription	Rectal Mucosa Donor 31	rectum

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