Variant report

Variant	rs60959144
Chromosome Location	chr11:57224643-57224644
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	ZNF143	chr11:57224531-57225224	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr11:57224572-57227161	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAZ	chr11:57224377-57225265	IMR90	lung:	n/a	chr11:57224873-57224883
4	TCF12	chr11:57224517-57226841	A549	lung:	n/a	chr11:57224849-57224856
5	CTCF	chr11:57224624-57224683	K562	blood:	n/a	n/a
6	CTCF	chr11:57224540-57224690	NHEK	skin:	n/a	n/a
7	RAD21	chr11:57224574-57225449	HCT-116	colon:	n/a	chr11:57224973-57224987 chr11:57224976-57224985 chr11:57224977-57224987 chr11:57224975-57224988 chr11:57224972-57224991
8	CTCF	chr11:57224614-57224754	GM12892	blood:	n/a	n/a
9	RAD21	chr11:57224638-57225487	H1-hESC	embryonic stem cell:	n/a	chr11:57224973-57224987 chr11:57224976-57224985 chr11:57224977-57224987 chr11:57224975-57224988 chr11:57224972-57224991
10	CTCF	chr11:57224601-57224748	GM19240	blood:	n/a	n/a
11	CTCF	chr11:57224383-57225617	SK-N-SH	brain:	n/a	chr11:57224976-57224986 chr11:57224974-57224987 chr11:57224973-57224994 chr11:57224972-57224988 chr11:57224974-57224983 chr11:57224974-57224987 chr11:57224971-57224989
12	CTCF	chr11:57224632-57224756	GM19238	blood:	n/a	n/a
13	MTA3	chr11:57224571-57225399	GM12878	blood:	n/a	n/a
14	ZC3H11A	chr11:57224615-57225306	K562	blood:	n/a	n/a
15	CTCF	chr11:57224622-57224758	GM12891	blood:	n/a	n/a
16	MXI1	chr11:57224626-57225271	H1-hESC	embryonic stem cell:	n/a	n/a
17	SMC3	chr11:57224547-57225359	Hela-S3	cervix:	n/a	chr11:57224973-57224980 chr11:57224973-57224987
18	RAD21	chr11:57224234-57225460	SK-N-SH	brain:	n/a	chr11:57224973-57224987 chr11:57224976-57224985 chr11:57224977-57224987 chr11:57224975-57224988 chr11:57224972-57224991
19	TBP	chr11:57224615-57225645	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr11:57224615-57224752	GM10266	blood:	n/a	n/a
21	SMC3	chr11:57224545-57225487	SK-N-SH	brain:	n/a	chr11:57224973-57224980 chr11:57224973-57224987
22	CTCF	chr11:57224628-57224716	ProgFib	skin:	n/a	n/a
23	RAD21	chr11:57224630-57225388	HCT-116	colon:	n/a	chr11:57224973-57224987 chr11:57224976-57224985 chr11:57224977-57224987 chr11:57224975-57224988 chr11:57224972-57224991
24	JUN	chr11:57224594-57224967	H1-hESC	embryonic stem cell:	n/a	n/a
25	SMC3	chr11:57224565-57225298	HepG2	liver:	n/a	chr11:57224973-57224980 chr11:57224973-57224987
26	POLR2A	chr11:57224591-57225301	HepG2	liver:	n/a	n/a
27	CTCF	chr11:57224361-57226823	A549	lung:	n/a	chr11:57224976-57224986 chr11:57226317-57226335 chr11:57226318-57226334 chr11:57224974-57224987 chr11:57224973-57224994 chr11:57224972-57224988 chr11:57226320-57226333 chr11:57226319-57226340 chr11:57224974-57224983 chr11:57226320-57226329 chr11:57226089-57226102 chr11:57224974-57224987 chr11:57224971-57224989

No.	Distal block	Cell Line	Cell type
1	chr11:57224334..57225159-chr11:57293399..57293973,2	MCF-7	breast:
2	chr11:57224499..57227061-chr11:57335779..57338545,2	K562	blood:
3	chr11:57200442..57202544-chr11:57224498..57226461,2	K562	blood:
4	chr11:57224304..57226625-chr11:57294106..57296478,4	K562	blood:
5	chr11:57224518..57225774-chr11:57293864..57295277,11	K562	blood:
6	chr11:57223855..57226276-chr11:57231482..57234003,2	K562	blood:
7	chr11:57213111..57215775-chr11:57222788..57224703,2	K562	blood:
8	chr11:57113848..57114397-chr11:57224628..57225341,2	K562	blood:
9	chr11:57224560..57225436-chr11:57411980..57412884,2	K562	blood:
10	chr11:57223902..57225535-chr11:57281620..57284463,2	K562	blood:
11	chr11:57224546..57225432-chr11:57408726..57409938,3	K562	blood:
12	chr11:57197274..57199985-chr11:57224146..57225779,2	K562	blood:

Variant related genes	Relation type
RTN4RL2	TF binding region
ENSG00000149150	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11229032	1.00[ASN][1000 genomes]
rs6591423	1.00[ASN][1000 genomes]
rs7125786	1.00[ASN][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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57221600-57225200	Weak transcription	Gastric	stomach
2	chr11:57224400-57224800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:57224400-57225200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:57224400-57225200	Enhancers	A549	lung
5	chr11:57224400-57226000	Bivalent Enhancer	Fetal Intestine Large	intestine
6	chr11:57224400-57226000	Bivalent Enhancer	Fetal Intestine Small	intestine
7	chr11:57224400-57226000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr11:57224400-57226200	Bivalent Enhancer	Fetal Stomach	stomach
9	chr11:57224400-57226400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:57224600-57224800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
11	chr11:57224600-57224800	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
12	chr11:57224600-57224800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
13	chr11:57224600-57224800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:57224600-57224800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr11:57224600-57224800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
16	chr11:57224600-57224800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
17	chr11:57224600-57224800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
18	chr11:57224600-57224800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:57224600-57224800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:57224600-57224800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr11:57224600-57224800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:57224600-57224800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:57224600-57224800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
24	chr11:57224600-57224800	Flanking Active TSS	Liver	Liver
25	chr11:57224600-57224800	Enhancers	Duodenum Mucosa	Duodenum
26	chr11:57224600-57224800	Flanking Active TSS	HepG2	liver
27	chr11:57224600-57224800	Flanking Active TSS	NHDF-Ad	bronchial
28	chr11:57224600-57225000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:57224600-57225000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:57224600-57225000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
31	chr11:57224600-57225000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:57224600-57225000	Enhancers	Primary B cells from peripheral blood	blood
33	chr11:57224600-57225000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr11:57224600-57225000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:57224600-57225000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:57224600-57225000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:57224600-57225000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:57224600-57225000	Bivalent Enhancer	Brain Angular Gyrus	brain
39	chr11:57224600-57225000	Enhancers	Brain Anterior Caudate	brain
40	chr11:57224600-57225000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
41	chr11:57224600-57225000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr11:57224600-57225000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
43	chr11:57224600-57225000	Enhancers	Rectal Smooth Muscle	rectum
44	chr11:57224600-57225000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
45	chr11:57224600-57225000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
46	chr11:57224600-57225000	Enhancers	Hela-S3	cervix
47	chr11:57224600-57225000	Enhancers	K562	blood
48	chr11:57224600-57225000	Enhancers	NHEK	skin
49	chr11:57224600-57225200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:57224600-57225200	Active TSS	H9 Cell Line	embryonic stem cell

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