Variant report

Variant	rs947906
Chromosome Location	chr11:120106086-120106087
allele	G/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	chr11:120105642-120106194	MCF-7	breast:	n/a	chr11:120105912-120105930 chr11:120105915-120105928 chr11:120105913-120105929 chr11:120105915-120105928 chr11:120105914-120105935
2	CTCF	chr11:120105618-120106179	GM12878	blood:	n/a	chr11:120105912-120105930 chr11:120105915-120105928 chr11:120105913-120105929 chr11:120105915-120105928 chr11:120105914-120105935
3	SMC3	chr11:120105563-120107116	SK-N-SH	brain:	n/a	chr11:120105914-120105928
4	MAZ	chr11:120105737-120106108	K562	blood:	n/a	n/a
5	CTCF	chr11:120105670-120106126	H1-hESC	embryonic stem cell:	n/a	chr11:120105912-120105930 chr11:120105915-120105928 chr11:120105913-120105929 chr11:120105915-120105928 chr11:120105914-120105935
6	CTCF	chr11:120105713-120106101	K562	blood:	n/a	chr11:120105912-120105930 chr11:120105915-120105928 chr11:120105913-120105929 chr11:120105915-120105928 chr11:120105914-120105935
7	RAD21	chr11:120105702-120106144	HepG2	liver:	n/a	chr11:120105913-120105932 chr11:120105917-120105926
8	SMC3	chr11:120105578-120106184	GM12878	blood:	n/a	chr11:120105914-120105928
9	RXRA	chr11:120105732-120106103	H1-hESC	embryonic stem cell:	n/a	chr11:120105920-120105927 chr11:120105912-120105932
10	ZNF143	chr11:120105733-120106126	GM12878	blood:	n/a	n/a
11	ZNF143	chr11:120105757-120106090	K562	blood:	n/a	n/a
12	RAD21	chr11:120105694-120106148	GM12878	blood:	n/a	chr11:120105913-120105932 chr11:120105917-120105926
13	JUND	chr11:120105764-120106098	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr11:120105697-120106121	IMR90	lung:	n/a	chr11:120105912-120105930 chr11:120105915-120105928 chr11:120105913-120105929 chr11:120105915-120105928 chr11:120105914-120105935
15	SMC3	chr11:120105696-120106122	HepG2	liver:	n/a	chr11:120105914-120105928
16	CTCF	chr11:120105537-120106347	HCT-116	colon:	n/a	chr11:120105912-120105930 chr11:120105915-120105928 chr11:120105913-120105929 chr11:120105915-120105928 chr11:120105914-120105935
17	TBL1XR1	chr11:120105744-120106086	GM12878	blood:	n/a	n/a
18	SMC3	chr11:120105736-120106141	K562	blood:	n/a	chr11:120105914-120105928
19	TBL1XR1	chr11:120105801-120106234	K562	blood:	n/a	n/a
20	RAD21	chr11:120105535-120106311	HCT-116	colon:	n/a	chr11:120105913-120105932 chr11:120105917-120105926
21	RAD21	chr11:120105744-120106179	H1-hESC	embryonic stem cell:	n/a	chr11:120105913-120105932 chr11:120105917-120105926
22	ZEB1	chr11:120105739-120106121	GM12878	blood:	n/a	n/a
23	RAD21	chr11:120105758-120106098	A549	lung:	n/a	chr11:120105913-120105932 chr11:120105917-120105926
24	RAD21	chr11:120105730-120106289	Hela-S3	cervix:	n/a	chr11:120105913-120105932 chr11:120105917-120105926
25	RAD21	chr11:120105555-120106142	H1-hESC	embryonic stem cell:	n/a	chr11:120105913-120105932 chr11:120105917-120105926
26	RAD21	chr11:120105798-120106107	GM12878	blood:	n/a	chr11:120105913-120105932 chr11:120105917-120105926
27	CTCF	chr11:120105753-120106092	GM12878	blood:	n/a	chr11:120105912-120105930 chr11:120105915-120105928 chr11:120105913-120105929 chr11:120105915-120105928 chr11:120105914-120105935
28	RAD21	chr11:120105638-120106239	A549	lung:	n/a	chr11:120105913-120105932 chr11:120105917-120105926
29	POLR2A	chr11:120105823-120106246	HepG2	liver:	n/a	n/a
30	CTCF	chr11:120105749-120106086	GM12891	blood:	n/a	chr11:120105912-120105930 chr11:120105915-120105928 chr11:120105913-120105929 chr11:120105915-120105928 chr11:120105914-120105935
31	RAD21	chr11:120105329-120106336	SK-N-SH	brain:	n/a	chr11:120105913-120105932 chr11:120105917-120105926
32	STAT3	chr11:120105850-120106137	MCF10A-Er-Src	breast:	n/a	chr11:120105999-120106007
33	RAD21	chr11:120105654-120106191	A549	lung:	n/a	chr11:120105913-120105932 chr11:120105917-120105926
34	RAD21	chr11:120105756-120106139	GM12878	blood:	n/a	chr11:120105913-120105932 chr11:120105917-120105926
35	RAD21	chr11:120105452-120106416	HCT-116	colon:	n/a	chr11:120105913-120105932 chr11:120105917-120105926
36	RUNX3	chr11:120105699-120106104	GM12878	blood:	n/a	n/a
37	RAD21	chr11:120105727-120106098	SK-N-SH_RA	brain:	n/a	chr11:120105913-120105932 chr11:120105917-120105926
38	RAD21	chr11:120105549-120106256	ECC-1	luminal epithelium:	n/a	chr11:120105913-120105932 chr11:120105917-120105926
39	MYC	chr11:120105857-120106090	MCF10A-Er-Src	breast:	n/a	n/a
40	CTCF	chr11:120105759-120106093	ECC-1	luminal epithelium:	n/a	chr11:120105912-120105930 chr11:120105915-120105928 chr11:120105913-120105929 chr11:120105915-120105928 chr11:120105914-120105935
41	CTCF	chr11:120105490-120106523	A549	lung:	n/a	chr11:120105912-120105930 chr11:120105915-120105928 chr11:120105913-120105929 chr11:120105915-120105928 chr11:120105914-120105935
42	STAT1	chr11:120105757-120106123	GM12878	blood:	n/a	chr11:120105999-120106007
43	CTCF	chr11:120105552-120106351	SK-N-SH	brain:	n/a	chr11:120105912-120105930 chr11:120105915-120105928 chr11:120105913-120105929 chr11:120105915-120105928 chr11:120105914-120105935
44	RAD21	chr11:120105676-120106102	SK-N-SH_RA	brain:	n/a	chr11:120105913-120105932 chr11:120105917-120105926
45	SMC3	chr11:120105717-120106197	Hela-S3	cervix:	n/a	chr11:120105914-120105928
46	RAD21	chr11:120105708-120106130	IMR90	lung:	n/a	chr11:120105913-120105932 chr11:120105917-120105926
47	CTCF	chr11:120105704-120106107	A549	lung:	n/a	chr11:120105912-120105930 chr11:120105915-120105928 chr11:120105913-120105929 chr11:120105915-120105928 chr11:120105914-120105935
48	RAD21	chr11:120105537-120106179	MCF-7	breast:	n/a	chr11:120105913-120105932 chr11:120105917-120105926
49	RXRA	chr11:120105801-120106086	HepG2	liver:	n/a	chr11:120105920-120105927 chr11:120105912-120105932
50	ZC3H11A	chr11:120105860-120106206	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:120079370..120085014-chr11:120104504..120109067,9	K562	blood:
2	chr11:120105076..120106736-chr11:120169805..120171450,18	K562	blood:
3	chr11:120101055..120116563-chr11:120160593..120179156,52	K562	blood:
4	chr11:120105900..120109423-chr11:120193866..120196780,3	MCF-7	breast:
5	chr11:120080610..120089931-chr11:120105398..120112199,18	K562	blood:
6	chr11:120105780..120109103-chr11:120204882..120208710,8	K562	blood:
7	chr11:119987020..119991053-chr11:120105932..120108438,3	K562	blood:
8	chr11:120105974..120107720-chr11:120187522..120190071,3	K562	blood:
9	chr11:120105456..120106436-chr11:120173320..120174423,6	MCF-7	breast:
10	chr11:120042978..120043613-chr11:120105435..120106323,2	K562	blood:
11	chr11:120105780..120109103-chr11:120204882..120208710,5	K562	blood:
12	chr11:120105385..120106108-chr11:120170023..120170943,3	MCF-7	breast:
13	chr11:120104352..120110604-chr11:120164438..120175098,43	MCF-7	breast:
14	chr11:120104850..120106373-chr11:120170312..120171433,18	MCF-7	breast:
15	chr11:120104320..120113596-chr11:120167938..120177639,38	MCF-7	breast:
16	chr11:120037531..120041521-chr11:120105416..120108760,8	K562	blood:
17	chr11:120105294..120106722-chr11:120173447..120174421,11	MCF-7	breast:
18	chr11:120105745..120106386-chr11:120166391..120167340,4	K562	blood:
19	chr11:120105406..120106378-chr11:120172236..120174440,21	K562	blood:
20	chr11:120105812..120109397-chr11:120193833..120197413,4	K562	blood:
21	chr11:120104420..120112680-chr11:120168705..120181524,41	K562	blood:
22	chr11:120105904..120108316-chr11:120197614..120199213,2	K562	blood:

Variant related genes	Relation type
POU2F3	TF binding region
ENSG00000181264	Chromatin interaction
ENSG00000137699	Chromatin interaction
ENSG00000184232	Chromatin interaction
ENSG00000196914	Chromatin interaction
ENSG00000137709	Chromatin interaction
ENSG00000176984	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs41460849	0.83[YRI][hapmap];0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription 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	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120096600-120110800	Weak transcription	Right Atrium	heart
2	chr11:120097200-120106200	Weak transcription	Esophagus	oesophagus
3	chr11:120099800-120110800	Weak transcription	Ovary	ovary
4	chr11:120100400-120106200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:120101600-120111000	Weak transcription	Liver	Liver
6	chr11:120102000-120108200	Weak transcription	Fetal Intestine Large	intestine
7	chr11:120104800-120106800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:120105200-120106200	Enhancers	Pancreas	Pancrea
9	chr11:120105400-120106600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:120105400-120108000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:120105600-120107400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr11:120105600-120108000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr11:120105800-120106200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
14	chr11:120105800-120106600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:120105800-120107600	Enhancers	HMEC	breast
16	chr11:120105800-120107800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr11:120105800-120110000	Weak transcription	Fetal Intestine Small	intestine
18	chr11:120106000-120106800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr11:120106000-120107000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:120106000-120107000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr11:120106000-120107400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr11:120106000-120107400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr11:120106000-120107400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:120106000-120107600	Enhancers	NHEK	skin
25	chr11:120106000-120110200	Weak transcription	Spleen	Spleen

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