Variant report

Variant	rs3177514
Chromosome Location	chr11:66130358-66130359
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66068233..66070406-chr11:66128883..66130445,2	K562	blood:
2	chr11:66078513..66080332-chr11:66128369..66131852,4	K562	blood:
3	chr11:66100823..66106592-chr11:66129818..66135879,7	MCF-7	breast:
4	chr11:66118889..66120535-chr11:66129008..66130899,2	K562	blood:
5	chr11:66102236..66104833-chr11:66128343..66130534,2	MCF-7	breast:
6	chr11:66044854..66050210-chr11:66125615..66133270,8	MCF-7	breast:
7	chr11:66034775..66036693-chr11:66128427..66131878,3	K562	blood:
8	chr11:66110359..66118130-chr11:66126104..66133540,18	MCF-7	breast:
9	chr11:66103854..66118324-chr11:66119048..66141728,55	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254452	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000174684	Chromatin interaction
ENSG00000254762	Chromatin interaction
ENSG00000174871	Chromatin interaction
ENSG00000174791	Chromatin interaction
ENSG00000174903	Chromatin interaction
ENSG00000255468	Chromatin interaction
ENSG00000254756	Chromatin interaction
ENSG00000245156	Chromatin interaction
ENSG00000254458	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	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1047029	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10750784	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10791869	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10791872	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10791874	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10791876	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10896111	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10896112	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896115	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10896116	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227465	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11601396	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11823140	0.88[EUR][1000 genomes]
rs12416747	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12576293	0.83[ASN][1000 genomes]
rs12576299	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12577196	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12785321	0.88[EUR][1000 genomes]
rs12785651	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12786563	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12794121	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546358	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1784029	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1785633	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1785639	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1892940	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2236679	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2279861	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2279862	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2282530	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2282531	0.89[EUR][1000 genomes]
rs3016767	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34043951	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4244813	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930177	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4930178	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930179	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4930181	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4930360	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4930362	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4930363	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4930366	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4930368	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55998145	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56123976	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56321771	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61891449	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6591213	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6591215	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6591217	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66810040	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67780191	0.81[ASN][1000 genomes]
rs7104253	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7104570	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7105015	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7105401	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7107191	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7110944	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7117630	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7126018	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73489638	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938676	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7939111	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7940980	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs905770	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs947978	0.90[AMR][1000 genomes];0.92[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
rs3177514	RIN1	cis	Whole Blood	GTEx

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66116000-66134400	Weak transcription	Left Ventricle	heart
2	chr11:66116000-66135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:66116000-66137200	Weak transcription	Fetal Kidney	kidney
4	chr11:66116000-66138400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:66116000-66138400	Weak transcription	Brain Hippocampus Middle	brain
6	chr11:66116000-66138400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:66116000-66138400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:66116200-66137000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:66116200-66137400	Weak transcription	Brain Angular Gyrus	brain
10	chr11:66116200-66137400	Weak transcription	Brain Anterior Caudate	brain
11	chr11:66116200-66137800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:66116200-66138400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr11:66116800-66130600	Weak transcription	Adipose Nuclei	Adipose
14	chr11:66116800-66137200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:66116800-66137400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:66116800-66138400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr11:66117000-66132800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:66117000-66138200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr11:66119000-66137800	Weak transcription	A549	lung
20	chr11:66121400-66138400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:66121800-66138400	Weak transcription	Primary B cells from cord blood	blood
22	chr11:66122000-66130400	Weak transcription	Stomach Mucosa	stomach
23	chr11:66122000-66137400	Strong transcription	Fetal Intestine Small	intestine
24	chr11:66122200-66130600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:66122200-66130800	Weak transcription	Primary T cells from cord blood	blood
26	chr11:66125000-66131400	Strong transcription	Fetal Intestine Large	intestine
27	chr11:66125600-66130400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr11:66125800-66131000	Strong transcription	Liver	Liver
29	chr11:66126200-66130400	Weak transcription	Right Ventricle	heart
30	chr11:66126200-66136400	Strong transcription	Fetal Stomach	stomach
31	chr11:66127200-66131000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr11:66127400-66131600	Strong transcription	HepG2	liver
33	chr11:66127400-66131800	Strong transcription	Brain Germinal Matrix	brain
34	chr11:66127400-66132800	Weak transcription	Placenta	Placenta
35	chr11:66127400-66137200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:66127400-66137400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr11:66127600-66137600	Weak transcription	NHEK	skin
38	chr11:66127800-66136000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:66128000-66132000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:66128000-66133000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:66128000-66137000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:66128200-66131200	Strong transcription	Gastric	stomach
43	chr11:66128200-66131400	Strong transcription	Fetal Brain Female	brain
44	chr11:66128200-66134400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr11:66128200-66137000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:66128200-66137200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:66128200-66138600	Weak transcription	Dnd41	blood
48	chr11:66128600-66133200	Weak transcription	Esophagus	oesophagus
49	chr11:66128600-66134000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:66128600-66135800	Weak transcription	Psoas Muscle	Psoas

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