Variant report

Variant	rs116339043
Chromosome Location	chr12:48214205-48214206
allele	A/C
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	MYC	chr12:48213653-48215083	Hela-S3	cervix:	n/a	chr12:48213792-48213802
2	TAF1	chr12:48213688-48214267	HepG2	liver:	n/a	n/a
3	PBX3	chr12:48213512-48214863	SK-N-SH	brain:	n/a	n/a
4	NR3C1	chr12:48212927-48214894	A549	lung:	n/a	chr12:48214341-48214348 chr12:48214168-48214181
5	PML	chr12:48213799-48214273	K562	blood:	n/a	n/a
6	MAX	chr12:48213473-48214403	HepG2	liver:	n/a	chr12:48213792-48213802
7	POLR2A	chr12:48212541-48214340	GM12892	blood:	n/a	n/a
8	TAF1	chr12:48212590-48215151	ECC-1	luminal epithelium:	n/a	n/a
9	RAD21	chr12:48213608-48215016	ECC-1	luminal epithelium:	n/a	n/a
10	GATA3	chr12:48213426-48214878	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr12:48212665-48215399	Hela-S3	cervix:	n/a	n/a
12	JUND	chr12:48214203-48214747	HepG2	liver:	n/a	n/a
13	TFAP2A	chr12:48212376-48215217	Hela-S3	cervix:	n/a	chr12:48213280-48213288 chr12:48212492-48212502 chr12:48215068-48215078 chr12:48212492-48212502 chr12:48213646-48213656 chr12:48212848-48212858 chr12:48213279-48213287 chr12:48212809-48212821 chr12:48213280-48213288 chr12:48215066-48215080 chr12:48213278-48213289 chr12:48213280-48213288 chr12:48212846-48212860 chr12:48213278-48213289 chr12:48212492-48212502 chr12:48215066-48215080 chr12:48212687-48212699 chr12:48213279-48213287 chr12:48213278-48213289 chr12:48212843-48212858 chr12:48212492-48212502 chr12:48213279-48213287 chr12:48212687-48212698 chr12:48212848-48212860 chr12:48213646-48213656 chr12:48213278-48213289
14	TCF12	chr12:48212677-48215465	ECC-1	luminal epithelium:	n/a	n/a
15	CREB1	chr12:48213489-48214435	A549	lung:	n/a	n/a
16	MAX	chr12:48213743-48214876	A549	lung:	n/a	chr12:48213792-48213802
17	MAZ	chr12:48212023-48214870	K562	blood:	n/a	chr12:48213219-48213228 chr12:48213792-48213802
18	BRCA1	chr12:48214082-48214791	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr12:48213542-48214823	SK-N-SH	brain:	n/a	n/a
20	ZBTB33	chr12:48213942-48214764	A549	lung:	n/a	n/a
21	GATA3	chr12:48213586-48215164	MCF-7	breast:	n/a	n/a
22	ZNF263	chr12:48213792-48214233	HEK293-T-REx	kidney:	n/a	n/a
23	SIX5	chr12:48213900-48214665	A549	lung:	n/a	n/a
24	NFIC	chr12:48213441-48215549	ECC-1	luminal epithelium:	n/a	n/a
25	YY1	chr12:48213514-48214433	ECC-1	luminal epithelium:	n/a	chr12:48213783-48213794 chr12:48213714-48213728 chr12:48213569-48213583 chr12:48214056-48214078
26	MAX	chr12:48213532-48215230	A549	lung:	n/a	chr12:48213792-48213802
27	MXI1	chr12:48214025-48214212	H1-hESC	embryonic stem cell:	n/a	n/a
28	ATF3	chr12:48213924-48214846	A549	lung:	n/a	n/a
29	REST	chr12:48214171-48214855	PFSK-1	brain:	n/a	chr12:48214741-48214761
30	POLR2A	chr12:48212440-48214291	GM15510	blood:	n/a	n/a
31	JUND	chr12:48214128-48214964	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr12:48212964-48214913	MCF-7	breast:	n/a	n/a
33	JUND	chr12:48213496-48215444	SK-N-SH	brain:	n/a	chr12:48215305-48215315 chr12:48214984-48214993
34	GATA3	chr12:48214062-48214339	SH-SY5Y	brain:	n/a	n/a
35	POLR2A	chr12:48212622-48214297	K562	blood:	n/a	n/a
36	SP1	chr12:48213548-48215043	A549	lung:	n/a	chr12:48213779-48213793 chr12:48213788-48213802 chr12:48213700-48213712 chr12:48213784-48213798 chr12:48214300-48214314 chr12:48213782-48213794 chr12:48213783-48213792
37	MAX	chr12:48213591-48215538	ECC-1	luminal epithelium:	n/a	chr12:48213792-48213802
38	JUND	chr12:48214117-48214871	SK-N-SH	brain:	n/a	n/a
39	MAZ	chr12:48213622-48214747	HepG2	liver:	n/a	chr12:48213792-48213802
40	MYC	chr12:48214034-48214225	HepG2	liver:	n/a	n/a
41	REST	chr12:48213915-48214396	A549	lung:	n/a	n/a
42	PML	chr12:48213770-48214433	GM12878	blood:	n/a	n/a
43	FOXM1	chr12:48213621-48215061	ECC-1	luminal epithelium:	n/a	n/a
44	MYC	chr12:48213595-48214569	K562	blood:	n/a	chr12:48213792-48213802
45	TBL1XR1	chr12:48213673-48214632	K562	blood:	n/a	n/a
46	MAFK	chr12:48213915-48214858	Hela-S3	cervix:	n/a	n/a
47	GATA3	chr12:48213491-48214956	T-47D	breast:	n/a	n/a
48	POLR2A	chr12:48212148-48215367	H1-hESC	embryonic stem cell:	n/a	n/a
49	MYC	chr12:48213648-48214708	MCF10A-Er-Src	breast:	n/a	chr12:48213792-48213802
50	UBTF	chr12:48212776-48214222	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:48214187-48214237	GM12878	blood:	n/a
2	chr12:48214187-48214237	Caco-2	colon:	n/a
3	chr12:48214187-48214237	ProgFib	skin:	n/a
4	chr12:48214187-48214237	HEEpiC	esophagus:	n/a
5	chr12:48214187-48214237	HIPEpiC	eye:	n/a
6	chr12:48214187-48214237	BJ	skin:	n/a
7	chr12:48214187-48214237	T-47D	breast:	n/a
8	chr12:48214187-48214237	NT2-D1	testis:	n/a
9	chr12:48214187-48214237	MCF-7	breast:	n/a
10	chr12:48214187-48214237	HCT-116	colon:	n/a
11	chr12:48214187-48214237	SAEC	small airway:	n/a
12	chr12:48214187-48214237	Jurkat	blood:	n/a
13	chr12:48214187-48214237	CMK	blood:	n/a
14	chr12:48214187-48214237	AG10803	skin:	n/a
15	chr12:48214187-48214237	HCF	heart:	n/a
16	chr12:48214187-48214237	AoSMC	blood vessel:	n/a
17	chr12:48214187-48214237	AG04449	skin:	fetal
18	chr12:48214187-48214237	AG09319	gingival:	n/a
19	chr12:48214187-48214237	HRCEpiC	kidney:	n/a
20	chr12:48214187-48214237	HCM	heart:	n/a
21	chr12:48214187-48214237	HCPEpiC	choroid plexus:	n/a
22	chr12:48214187-48214237	HAEpiC	amniotic membrane:	n/a
23	chr12:48214187-48214237	HPAEpiC	pulmonary alveolar:	n/a
24	chr12:48214187-48214237	Hela-S3	cervix:	n/a
25	chr12:48214187-48214237	BE2_C	brain:	n/a
26	chr12:48214187-48214237	SK-N-SH	brain:	n/a
27	chr12:48214187-48214237	NHBE	bronchial:	n/a
28	chr12:48214187-48214237	PANC-1	pancreas:	n/a
29	chr12:48214187-48214237	SK-N-MC	brain:	n/a
30	chr12:48214187-48214237	HRPEpiC	eye:	n/a
31	chr12:48214187-48214237	GM06990	blood:	n/a
32	chr12:48214187-48214237	NHDF-neo	bronchial:	n/a
33	chr12:48214187-48214237	HMEC	breast:	n/a
34	chr12:48214187-48214237	HRE	kidney:	n/a
35	chr12:48214187-48214237	HL-60	blood:	n/a
36	chr12:48214187-48214237	PrEC	prostate:	n/a
37	chr12:48214187-48214237	GM19239	blood:	n/a
38	chr12:48214187-48214237	A549	lung:	n/a
39	chr12:48214187-48214237	HEK293	kidney:	embryo
40	chr12:48214187-48214237	PFSK-1	brain:	n/a
41	chr12:48214187-48214237	LNCaP	prostate:	n/a
42	chr12:48214187-48214237	K562	blood:	n/a
43	chr12:48214187-48214237	HepG2	liver:	n/a
44	chr12:48214187-48214237	NB4	blood:	n/a
45	chr12:48214187-48214237	ovcar-3	ovarian:	n/a
46	chr12:48214187-48214237	H1-hESC	embryonic stem cell:	embryo
47	chr12:48214187-48214237	MCF10A-Er-Src	breast:	n/a
48	chr12:48214187-48214237	ECC-1	luminal epithelium:	n/a
49	chr12:48214187-48214237	HUVEC	blood vessel:	n/a
50	chr12:48214187-48214237	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48184371..48186432-chr12:48213381..48215555,2	MCF-7	breast:
2	chr12:48180097..48182896-chr12:48212671..48214919,5	MCF-7	breast:
3	chr12:48118580..48122371-chr12:48212442..48215354,3	MCF-7	breast:
4	chr12:48185713..48187235-chr12:48211636..48214598,2	K562	blood:
5	chr12:48213711..48214326-chr3:170587750..170588493,2	Hela-S3	cervix:
6	chr12:48213573..48214228-chr7:56119167..56120010,2	Hela-S3	cervix:
7	chr12:48213696..48214315-chr6:160148175..160149055,2	Hela-S3	cervix:
8	chr12:48213827..48214395-chr6:27114575..27115465,2	Hela-S3	cervix:
9	chr12:48166096..48168794-chr12:48212793..48215345,3	K562	blood:
10	chr12:48144391..48147829-chr12:48212557..48216683,4	MCF-7	breast:
11	chr12:48213645..48214318-chr15:91497979..91498519,2	Hela-S3	cervix:
12	chr12:48141723..48143940-chr12:48213579..48216155,2	MCF-7	breast:
13	chr12:48212786..48214418-chr16:73090637..73093148,2	MCF-7	breast:
14	chr12:48214165..48215059-chr3:14219720..14220575,2	Hela-S3	cervix:
15	chr12:48165941..48169073-chr12:48212869..48214658,5	MCF-7	breast:
16	chr12:48213628..48214497-chr12:48222488..48223365,3	Hela-S3	cervix:
17	chr12:48098678..48101690-chr12:48212441..48216325,5	MCF-7	breast:
18	chr12:48170860..48172762-chr12:48213398..48215365,3	MCF-7	breast:
19	chr12:48166096..48168794-chr12:48212793..48215345,4	K562	blood:
20	chr12:48212981..48215317-chr3:161089373..161090906,2	MCF-7	breast:
21	chr12:48214094..48214594-chr12:90102471..90102972,2	Hela-S3	cervix:
22	chr12:48213554..48216263-chr17:57923656..57925341,2	MCF-7	breast:
23	chr1:145382599..145383425-chr12:48213442..48214824,3	Hela-S3	cervix:
24	chr12:48135112..48136657-chr12:48212167..48214385,2	K562	blood:
25	chr12:48166675..48167292-chr12:48213824..48214510,2	Hela-S3	cervix:
26	chr12:48213886..48214566-chr14:53173485..53174188,2	Hela-S3	cervix:
27	chr12:48214051..48215050-chr16:88729320..88730007,2	Hela-S3	cervix:
28	chr12:46662257..46664463-chr12:48212247..48214266,2	MCF-7	breast:
29	chr10:104154767..104155540-chr12:48213534..48214363,2	Hela-S3	cervix:
30	chr12:48181077..48183243-chr12:48212679..48214821,2	K562	blood:
31	chr12:48171729..48173429-chr12:48213188..48215174,2	K562	blood:

Variant related genes	Relation type
HDAC7	TF binding region
HDAC7	CpG island
ENSG00000154767	Chromatin interaction
ENSG00000100519	Chromatin interaction
ENSG00000005175	Chromatin interaction
ENSG00000146731	Chromatin interaction
ENSG00000079337	Chromatin interaction
ENSG00000271614	Chromatin interaction
ENSG00000140836	Chromatin interaction
ENSG00000167508	Chromatin interaction
ENSG00000061273	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000170860	Chromatin interaction
ENSG00000146457	Chromatin interaction
ENSG00000211584	Chromatin interaction
ENSG00000166965	Chromatin interaction
ENSG00000196542	Chromatin interaction
ENSG00000258384	Chromatin interaction
ENSG00000260630	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000111371	Chromatin interaction
ENSG00000257488	Chromatin interaction
ENSG00000257433	Chromatin interaction
ENSG00000112096	Chromatin interaction
ENSG00000163584	Chromatin interaction
ENSG00000111405	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000077150	Chromatin interaction
ENSG00000070961	Chromatin interaction
ENSG00000146733	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
2	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
3	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
4	nsv524967	chr12:48119562-48215180	Flanking Active TSS Enhancers Genic enhancers Weak transcription 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	66 gene(s)	inside rSNPs	diseases
5	nsv899059	chr12:48129344-48215180	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
7	nsv899060	chr12:48180508-48231430	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
8	esv3693398	chr12:48186738-48215749	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv1048466	chr12:48195350-48262541	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv541488	chr12:48195350-48262541	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	esv3404223	chr12:48212210-48215058	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	50 gene(s)	inside rSNPs	n/a
12	esv3357843	chr12:48212735-48214833	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	50 gene(s)	inside rSNPs	n/a
13	esv3355047	chr12:48213135-48214383	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	47 gene(s)	inside rSNPs	n/a
14	esv3334502	chr12:48213768-48214277	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	45 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48211600-48214400	Active TSS	Aorta	Aorta
2	chr12:48211600-48214600	Active TSS	Psoas Muscle	Psoas
3	chr12:48212000-48214800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr12:48212200-48214400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:48212200-48214400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:48212200-48214400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr12:48212200-48214400	Active TSS	Small Intestine	intestine
8	chr12:48212200-48214600	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr12:48212200-48214600	Active TSS	Esophagus	oesophagus
10	chr12:48212200-48214600	Active TSS	Right Atrium	heart
11	chr12:48212200-48214800	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr12:48212400-48214400	Active TSS	Gastric	stomach
13	chr12:48212400-48214600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:48212400-48214600	Active TSS	Colon Smooth Muscle	Colon
15	chr12:48212400-48214600	Active TSS	HSMM	muscle
16	chr12:48212400-48214600	Active TSS	HSMMtube	muscle
17	chr12:48212400-48214600	Active TSS	NHDF-Ad	bronchial
18	chr12:48212400-48214800	Active TSS	Ovary	ovary
19	chr12:48212600-48214400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:48212600-48214400	Active TSS	Lung	lung
21	chr12:48212600-48214400	Active TSS	NHEK	skin
22	chr12:48212600-48214600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:48212600-48214600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:48212600-48214600	Active TSS	Muscle Satellite Cultured Cells	--
25	chr12:48212600-48214600	Active TSS	Left Ventricle	heart
26	chr12:48212600-48214800	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr12:48212600-48214800	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr12:48212800-48214400	Active TSS	Fetal Stomach	stomach
29	chr12:48212800-48214600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:48212800-48214600	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr12:48212800-48214600	Active TSS	Right Ventricle	heart
32	chr12:48212800-48214600	Active TSS	A549	lung
33	chr12:48212800-48214600	Active TSS	NH-A	brain
34	chr12:48213000-48214400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:48213000-48214400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:48213000-48214600	Active TSS	Placenta Amnion	Placenta Amnion
37	chr12:48213000-48214600	Active TSS	Rectal Smooth Muscle	rectum
38	chr12:48213000-48214600	Active TSS	HMEC	breast
39	chr12:48213000-48214800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:48213000-48214800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:48213000-48214800	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr12:48213000-48215000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr12:48213200-48214600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:48213200-48214600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:48213800-48214400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:48213800-48214400	Flanking Active TSS	Liver	Liver
47	chr12:48213800-48214800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr12:48213800-48215400	Flanking Active TSS	Colonic Mucosa	Colon
49	chr12:48214000-48214400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:48214000-48214400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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