Variant report

Variant	rs912717
Chromosome Location	chr6:34788567-34788568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34780723..34782615-chr6:34786684..34789139,2	K562	blood:
2	chr6:34759673..34761787-chr6:34787706..34790146,2	MCF-7	breast:
3	chr6:34759204..34760846-chr6:34788555..34790886,2	K562	blood:
4	chr6:34759201..34762395-chr6:34788232..34791970,5	MCF-7	breast:
5	chr6:34786614..34789043-chr6:34809197..34812183,2	K562	blood:
6	chr6:34758599..34760857-chr6:34787566..34790962,3	K562	blood:

Variant related genes	Relation type
ENSG00000065060	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs1018622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1051115	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11961041	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11963234	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11966100	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11967912	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11968954	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11968972	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12111129	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13193526	0.89[ASN][1000 genomes]
rs13195029	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13195361	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13195490	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13196785	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13196983	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13200792	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13205210	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13206245	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13208149	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13210470	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13212699	0.89[EUR][1000 genomes]
rs13213239	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13213288	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13213604	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13214596	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13215208	0.86[ASN][1000 genomes]
rs16895659	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2296361	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2296362	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2395603	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2395605	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28360525	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34261333	0.93[EUR][1000 genomes]
rs34355573	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34377413	0.94[EUR][1000 genomes]
rs34463942	0.94[EUR][1000 genomes]
rs34480956	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34681295	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34840245	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35081279	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35103554	0.89[EUR][1000 genomes]
rs35143960	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35186650	0.94[EUR][1000 genomes]
rs35195182	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35203657	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35285054	0.89[ASN][1000 genomes]
rs35369977	0.94[EUR][1000 genomes]
rs35444671	0.90[EUR][1000 genomes]
rs35744142	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35940001	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36026951	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3734261	0.92[ASN][1000 genomes]
rs3734266	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4438945	0.93[EUR][1000 genomes]
rs4646933	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6457792	0.84[ASN][1000 genomes]
rs6457796	0.80[ASN][1000 genomes]
rs6457797	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6457798	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66672772	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66926909	0.93[EUR][1000 genomes]
rs67622212	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67895864	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6904996	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6908462	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6909393	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6910824	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914031	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6914351	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6925175	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6926373	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6934741	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6941453	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71567467	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72892238	0.82[ASN][1000 genomes]
rs72892286	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72910111	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72910167	0.92[EUR][1000 genomes]
rs7739385	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7743724	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7743949	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7749750	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7755354	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7758743	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7759412	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7759985	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7761391	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7763989	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7764126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775947	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7776439	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9296133	0.95[ASN][1000 genomes]
rs9462002	0.85[EUR][1000 genomes]
rs9462003	0.86[EUR][1000 genomes]
rs9462027	0.92[ASN][1000 genomes]
rs9469852	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9469904	0.92[ASN][1000 genomes]
rs9968782	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv1032557	chr6:34565802-34802008	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv538196	chr6:34565802-34802008	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv885795	chr6:34704613-34823187	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
11	nsv870010	chr6:34713359-34880048	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv1025374	chr6:34723723-34887316	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv462905	chr6:34728253-34886436	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv602906	chr6:34728253-34886436	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv1028363	chr6:34733071-34859045	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv885796	chr6:34739726-34823187	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
17	nsv1015792	chr6:34741917-34887316	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
18	nsv1021733	chr6:34751052-34887316	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
19	nsv1016703	chr6:34784801-34827693	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
20	nsv1026121	chr6:34786887-34961360	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs912717	UHRF1BP1	cis	Muscle Skeletal	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34761400-34789400	Weak transcription	Fetal Stomach	stomach
2	chr6:34761400-34789400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:34761400-34790800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:34764000-34803800	Weak transcription	HSMM	muscle
5	chr6:34772600-34789400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:34773200-34791400	Weak transcription	Gastric	stomach
7	chr6:34775400-34802400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:34776600-34789600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:34777800-34789000	Weak transcription	Primary T cells from cord blood	blood
10	chr6:34779200-34797000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:34779200-34807400	Weak transcription	A549	lung
12	chr6:34779400-34789400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:34779400-34789400	Weak transcription	Hela-S3	cervix
14	chr6:34779400-34796400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:34779400-34841000	Weak transcription	NH-A	brain
16	chr6:34779600-34791000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:34779600-34791400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:34779600-34796200	Weak transcription	NHEK	skin
19	chr6:34779800-34789400	Weak transcription	Fetal Intestine Small	intestine
20	chr6:34780800-34794000	Weak transcription	Aorta	Aorta
21	chr6:34781000-34790800	Weak transcription	Brain Angular Gyrus	brain
22	chr6:34781000-34797000	Weak transcription	Colon Smooth Muscle	Colon
23	chr6:34781200-34789400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr6:34781400-34790800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr6:34781600-34791000	Weak transcription	Brain Anterior Caudate	brain
26	chr6:34781600-34791400	Weak transcription	Brain Substantia Nigra	brain
27	chr6:34781600-34824000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr6:34781800-34790600	Weak transcription	Brain Germinal Matrix	brain
29	chr6:34782600-34789400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:34782800-34790800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:34783200-34807400	Weak transcription	Psoas Muscle	Psoas
32	chr6:34784200-34789600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:34784600-34789400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr6:34784600-34789600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:34785200-34789400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:34785400-34789400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr6:34785400-34789400	Weak transcription	Fetal Brain Female	brain
38	chr6:34785400-34789400	Weak transcription	HepG2	liver
39	chr6:34785400-34789600	Weak transcription	Fetal Intestine Large	intestine
40	chr6:34785400-34790600	Weak transcription	Osteobl	bone
41	chr6:34785400-34790800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:34785600-34789000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:34785600-34789000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:34785600-34789400	Weak transcription	Stomach Mucosa	stomach
45	chr6:34785600-34802400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr6:34786400-34788600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:34786600-34838800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr6:34786800-34789400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr6:34787000-34789200	Enhancers	K562	blood
50	chr6:34787200-34789400	Weak transcription	Thymus	Thymus

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