Variant report

Variant	rs9949697
Chromosome Location	chr18:6733041-6733042
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:6732980-6733130	HBMEC	blood vessel:	n/a	n/a
2	CTCF	chr18:6733040-6733190	NHDF-neo	bronchial:	n/a	n/a
3	CTCF	chr18:6733000-6733150	HCPEpiC	choroid plexus:	n/a	n/a
4	IRF1	chr18:6732956-6733093	K562	blood:	n/a	n/a
5	CTCF	chr18:6733020-6733170	AG04450	lung:	n/a	n/a
6	CTCF	chr18:6732960-6733110	HFF-Myc	foreskin:	n/a	n/a
7	CTCF	chr18:6733040-6733190	K562	blood:	n/a	n/a
8	CTCF	chr18:6733016-6733204	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr18:6732993-6733330	K562	blood:	n/a	n/a
10	CTCF	chr18:6733001-6733284	IMR90	lung:	n/a	n/a
11	CTCF	chr18:6733040-6733190	HRE	kidney:	n/a	n/a
12	CTCF	chr18:6732980-6733130	HPAF	blood vessel:	n/a	n/a
13	RAD21	chr18:6732986-6733268	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr18:6732980-6733130	HRPEpiC	eye:	n/a	n/a
15	RAD21	chr18:6733037-6733224	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr18:6733006-6733257	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr18:6733041-6733250	HUVEC	blood vessel:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:6685044..6687268-chr18:6731388..6733678,2	K562	blood:
2	chr18:6543479..6544036-chr18:6732819..6733527,2	MCF-7	breast:
3	chr18:6731530..6734164-chr18:6740298..6742070,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266441	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs16950597	1.00[EUR][1000 genomes]
rs16950600	1.00[EUR][1000 genomes]
rs16950617	1.00[EUR][1000 genomes]
rs16950671	1.00[EUR][1000 genomes]
rs1897287	1.00[EUR][1000 genomes]
rs4316830	1.00[EUR][1000 genomes]
rs4798492	1.00[EUR][1000 genomes]
rs57136505	0.83[AMR][1000 genomes]
rs57890332	1.00[EUR][1000 genomes]
rs58095606	1.00[EUR][1000 genomes]
rs59370093	1.00[EUR][1000 genomes]
rs6506442	1.00[EUR][1000 genomes]
rs7227706	1.00[EUR][1000 genomes]
rs7234713	1.00[EUR][1000 genomes]
rs7234756	1.00[EUR][1000 genomes]
rs7239934	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7244867	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73378787	1.00[EUR][1000 genomes]
rs73380715	1.00[EUR][1000 genomes]
rs73380727	0.83[AMR][1000 genomes]
rs73380731	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380732	1.00[EUR][1000 genomes]
rs73380739	1.00[EUR][1000 genomes]
rs73380746	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380752	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73384505	1.00[EUR][1000 genomes]
rs73384508	1.00[EUR][1000 genomes]
rs73940954	1.00[EUR][1000 genomes]
rs8088512	1.00[EUR][1000 genomes]
rs8092656	1.00[EUR][1000 genomes]
rs8093032	1.00[EUR][1000 genomes]
rs8099234	1.00[EUR][1000 genomes]
rs9951243	1.00[EUR][1000 genomes]
rs9960790	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059678	chr18:6155114-6838290	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv916883	chr18:6299209-7244642	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1055148	chr18:6527292-6790869	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv543629	chr18:6527292-6790869	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3529901	chr18:6537233-6851509	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3529902	chr18:6537233-6851509	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1063762	chr18:6542534-7382339	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv543630	chr18:6542534-7382339	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1057885	chr18:6598684-6754548	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1060757	chr18:6682974-7051982	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv543631	chr18:6682974-7051982	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:6730200-6735600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:6730200-6747800	Weak transcription	Left Ventricle	heart
3	chr18:6730400-6735600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr18:6730800-6733800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr18:6730800-6734800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr18:6730800-6738800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr18:6730800-6740400	Weak transcription	Psoas Muscle	Psoas
8	chr18:6730800-6740800	Weak transcription	Right Atrium	heart
9	chr18:6731200-6733200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr18:6731200-6735600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr18:6731600-6735400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr18:6731600-6735600	Weak transcription	Fetal Kidney	kidney
13	chr18:6731600-6741000	Weak transcription	K562	blood
14	chr18:6731800-6733200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr18:6731800-6733200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr18:6731800-6733800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr18:6731800-6733800	Active TSS	Fetal Lung	lung
18	chr18:6731800-6734600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr18:6731800-6736000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr18:6731800-6737600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr18:6731800-6738000	Weak transcription	HMEC	breast
22	chr18:6731800-6739800	Weak transcription	Placenta	Placenta
23	chr18:6731800-6743800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr18:6732000-6733800	Weak transcription	Fetal Brain Male	brain
25	chr18:6732000-6735800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr18:6732000-6737600	Weak transcription	HSMMtube	muscle
27	chr18:6732000-6740200	Weak transcription	NHLF	lung
28	chr18:6732200-6733800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr18:6732200-6737600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr18:6732400-6734600	Weak transcription	Fetal Stomach	stomach
31	chr18:6732400-6734800	Weak transcription	Brain Germinal Matrix	brain
32	chr18:6732400-6737600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr18:6732400-6737600	Weak transcription	HSMM	muscle
34	chr18:6732400-6740600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr18:6732600-6735200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr18:6732600-6735600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr18:6732600-6740000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr18:6732800-6733800	Weak transcription	Ovary	ovary
39	chr18:6732800-6737200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:6732800-6737600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr18:6732800-6740200	Weak transcription	Fetal Muscle Leg	muscle
42	chr18:6732800-6740600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr18:6732800-6740800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr18:6733000-6733400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr18:6733000-6734600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr18:6733000-6734800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr18:6733000-6734800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr18:6733000-6736800	Weak transcription	HUVEC	blood vessel
49	chr18:6733000-6737800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr18:6733000-6740000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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