Variant report

Variant	rs73351939
Chromosome Location	chr6:11413767-11413768
allele	C/T
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	CTCF	chr6:11413620-11413770	HBMEC	blood vessel:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
2	YY1	chr6:11413507-11413837	GM12878	blood:	n/a	chr6:11413730-11413740 chr6:11413661-11413671 chr6:11413661-11413683
3	SMC3	chr6:11413615-11413813	GM12878	blood:	n/a	chr6:11413677-11413691
4	CTCF	chr6:11413620-11413770	AG10803	skin:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
5	CTCF	chr6:11413640-11413790	HBMEC	blood vessel:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
6	RAD21	chr6:11413453-11413890	A549	lung:	n/a	chr6:11413679-11413688 chr6:11413673-11413692
7	SMC3	chr6:11413532-11413840	Hela-S3	cervix:	n/a	chr6:11413677-11413691
8	CTCF	chr6:11413640-11413790	HCM	heart:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
9	CTCF	chr6:11413640-11413790	SAEC	small airway:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
10	CTCF	chr6:11413620-11413770	Hela-S3	cervix:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
11	RAD21	chr6:11413553-11413815	A549	lung:	n/a	chr6:11413679-11413688 chr6:11413673-11413692
12	CTCF	chr6:11413620-11413770	GM12871	blood:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
13	CTCF	chr6:11413680-11413830	GM12878	blood:	n/a	n/a
14	CTCF	chr6:11413600-11413799	Gliobla	brain:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
15	RAD21	chr6:11413640-11413861	Hela-S3	cervix:	n/a	chr6:11413679-11413688 chr6:11413673-11413692
16	CTCF	chr6:11413601-11413824	GM12878	blood:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
17	CTCF	chr6:11413582-11413799	MCF-7	breast:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
18	CTCF	chr6:11413660-11413810	HMEC	breast:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
19	CTCF	chr6:11413760-11413910	HCT-116	colon:	n/a	n/a
20	CTCF	chr6:11413640-11413790	A549	lung:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
21	CTCF	chr6:11413620-11413770	GM12864	blood:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
22	CTCF	chr6:11413620-11413770	HMEC	breast:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
23	CTCF	chr6:11413640-11413790	GM12865	blood:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
24	RAD21	chr6:11413514-11413790	HepG2	liver:	n/a	chr6:11413679-11413688 chr6:11413673-11413692
25	YY1	chr6:11413592-11413873	ECC-1	luminal epithelium:	n/a	chr6:11413730-11413740 chr6:11413661-11413671 chr6:11413661-11413683
26	NFIC	chr6:11413725-11414437	GM12878	blood:	n/a	n/a
27	CTCF	chr6:11413660-11413810	GM12869	blood:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
28	RCOR1	chr6:11413743-11413920	GM12878	blood:	n/a	n/a
29	CTCF	chr6:11413640-11413790	AG04449	skin:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
30	CTCF	chr6:11413641-11413774	MCF-7	breast:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
31	CTCF	chr6:11413640-11413790	HUVEC	blood vessel:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
32	CTCF	chr6:11413654-11413771	A549	lung:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
33	CTCF	chr6:11413560-11413830	RPTEC	kidney:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
34	CTCF	chr6:11413612-11413787	MCF-7	breast:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
35	CTCF	chr6:11413640-11413790	GM12873	blood:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
36	CTCF	chr6:11413620-11413770	GM06990	blood:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
37	CTCF	chr6:11413640-11413790	BJ	skin:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
38	CTCF	chr6:11413625-11413771	GM19239	blood:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
39	CTCF	chr6:11413620-11413770	K562	blood:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
40	CTCF	chr6:11413620-11413770	HA-sp	spinal cord:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
41	YY1	chr6:11413477-11413866	GM12892	blood:	n/a	chr6:11413730-11413740 chr6:11413661-11413671 chr6:11413661-11413683
42	CTCF	chr6:11413546-11413826	K562	blood:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
43	YY1	chr6:11413562-11413844	HepG2	liver:	n/a	chr6:11413730-11413740 chr6:11413661-11413671 chr6:11413661-11413683
44	CTCF	chr6:11413660-11413810	HepG2	liver:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
45	YY1	chr6:11413625-11413833	HCT-116	colon:	n/a	chr6:11413730-11413740 chr6:11413661-11413671 chr6:11413661-11413683
46	CTCF	chr6:11413621-11413774	Hela-S3	cervix:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
47	CTCF	chr6:11413620-11413770	HCT-116	colon:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
48	CTCF	chr6:11413640-11413790	HPAF	blood vessel:	n/a	chr6:11413675-11413693 chr6:11413677-11413690
49	CTCF	chr6:11413626-11413767	MCF-7	breast:	n/a	chr6:11413675-11413693 chr6:11413677-11413690

No.	Distal block	Cell Line	Cell type
1	chr6:11229922..11234167-chr6:11411662..11415515,7	MCF-7	breast:
2	chr6:11387321..11394874-chr6:11409302..11416244,8	MCF-7	breast:
3	chr6:11216036..11217997-chr6:11412401..11415164,2	MCF-7	breast:
4	chr6:11232406..11233188-chr6:11413283..11413930,2	MCF-7	breast:
5	chr6:11413490..11417171-chr6:11433636..11437714,3	MCF-7	breast:
6	chr6:11394123..11395903-chr6:11413687..11415867,2	MCF-7	breast:
7	chr6:11388874..11392122-chr6:11413409..11415866,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233656	TF binding region
ENSG00000111859	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10046197	1.00[EUR][1000 genomes]
rs1150563	1.00[EUR][1000 genomes]
rs1195651	1.00[EUR][1000 genomes]
rs11962713	1.00[EUR][1000 genomes]
rs12332876	1.00[EUR][1000 genomes]
rs2807965	1.00[EUR][1000 genomes]
rs295057	1.00[EUR][1000 genomes]
rs477973	1.00[EUR][1000 genomes]
rs544766	1.00[EUR][1000 genomes]
rs552548	1.00[EUR][1000 genomes]
rs585322	1.00[EUR][1000 genomes]
rs58716971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59791855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs609389	1.00[EUR][1000 genomes]
rs613353	1.00[EUR][1000 genomes]
rs61378967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs617146	1.00[EUR][1000 genomes]
rs656674	1.00[EUR][1000 genomes]
rs6936918	1.00[EUR][1000 genomes]
rs6940009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73351942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73351967	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73351970	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73351978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73351980	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73355853	1.00[EUR][1000 genomes]
rs73366824	1.00[AMR][1000 genomes]
rs73368833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7744252	1.00[EUR][1000 genomes]
rs7744403	1.00[EUR][1000 genomes]
rs7761428	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs821537	1.00[EUR][1000 genomes]
rs821541	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv432848	chr6:11371614-11560114	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11405400-11419400	Weak transcription	Aorta	Aorta
2	chr6:11406600-11414600	Weak transcription	Primary B cells from cord blood	blood
3	chr6:11410800-11413800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr6:11411000-11415200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:11411200-11413800	Enhancers	Primary B cells from peripheral blood	blood
6	chr6:11411200-11413800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:11411200-11415000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:11411200-11415000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr6:11411200-11415600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:11411600-11417000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:11412000-11414200	Enhancers	Osteobl	bone
12	chr6:11412200-11415400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr6:11412400-11413800	Enhancers	Spleen	Spleen
14	chr6:11412400-11414200	Flanking Active TSS	GM12878-XiMat	blood
15	chr6:11412400-11414600	Enhancers	A549	lung
16	chr6:11412400-11415200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr6:11412400-11415200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:11412400-11415400	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr6:11412400-11416400	Weak transcription	Fetal Kidney	kidney
20	chr6:11412600-11413800	Weak transcription	HepG2	liver
21	chr6:11412600-11414200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr6:11412600-11414400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:11412600-11414800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:11412600-11416000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:11412600-11416200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr6:11412600-11416400	Weak transcription	NH-A	brain
27	chr6:11412600-11425600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:11412600-11425600	Weak transcription	NHLF	lung
29	chr6:11412800-11414200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr6:11412800-11414800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:11412800-11414800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:11412800-11415000	Weak transcription	NHDF-Ad	bronchial
33	chr6:11412800-11415200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:11412800-11416400	Weak transcription	HSMM	muscle
35	chr6:11413000-11414000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:11413400-11415600	Enhancers	Hela-S3	cervix
37	chr6:11413600-11413800	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr6:11413600-11413800	Enhancers	HUVEC	blood vessel
39	chr6:11413600-11415600	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr6:11413600-11416800	Enhancers	NHEK	skin

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