Variant report

Variant	rs552228058
Chromosome Location	chr11:65838343-65838344
allele	A/G
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	MAX	chr11:65836371-65838975	A549	lung:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
2	ZBTB7A	chr11:65837200-65838621	K562	blood:	n/a	n/a
3	ETS1	chr11:65837134-65838343	K562	blood:	n/a	chr11:65837233-65837246
4	CCNT2	chr11:65837208-65838564	K562	blood:	n/a	n/a
5	POLR2A	chr11:65837187-65838778	HUVEC	blood vessel:	n/a	n/a
6	NFIC	chr11:65837376-65838544	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr11:65836771-65838506	HepG2	liver:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
8	HMGN3	chr11:65837263-65838575	K562	blood:	n/a	n/a
9	CREB1	chr11:65838043-65838411	A549	lung:	n/a	n/a
10	MAZ	chr11:65836170-65839866	IMR90	lung:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
11	MYC	chr11:65837413-65838452	MCF-7	breast:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
12	TEAD4	chr11:65837514-65838372	ECC-1	luminal epithelium:	n/a	n/a
13	MAX	chr11:65836813-65838795	MCF-7	breast:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
14	CTCF	chr11:65838220-65838370	NHEK	skin:	n/a	n/a
15	MAX	chr11:65837252-65838902	K562	blood:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
16	CREB1	chr11:65836920-65838464	HepG2	liver:	n/a	n/a
17	SIN3AK20	chr11:65837183-65838353	K562	blood:	n/a	n/a
18	YY1	chr11:65837651-65838389	K562	blood:	n/a	n/a
19	POLR2A	chr11:65837113-65838630	MCF-7	breast:	n/a	n/a
20	ZBTB7A	chr11:65837677-65838477	ECC-1	luminal epithelium:	n/a	n/a
21	MXI1	chr11:65836442-65839722	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr11:65837140-65838616	A549	lung:	n/a	n/a
23	MAX	chr11:65836764-65838667	A549	lung:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
24	POLR2A	chr11:65836838-65838607	MCF-7	breast:	n/a	n/a
25	UBTF	chr11:65837778-65838640	K562	blood:	n/a	n/a
26	POLR2A	chr11:65838306-65838459	ProgFib	skin:	n/a	n/a
27	POLR2A	chr11:65837145-65838436	A549	lung:	n/a	n/a
28	MXI1	chr11:65836611-65839059	IMR90	lung:	n/a	n/a
29	SIN3AK20	chr11:65837049-65838698	PANC-1	pancreas:	n/a	n/a
30	HA-E2F1	chr11:65837298-65838433	Hela-S3	cervix:	n/a	chr11:65838316-65838328 chr11:65837588-65837602 chr11:65837658-65837669
31	POLR2A	chr11:65837310-65838387	H1-neurons	neurons:	n/a	n/a
32	CTCF	chr11:65834974-65838748	SK-N-SH	brain:	n/a	chr11:65838478-65838491 chr11:65838476-65838494 chr11:65835874-65835887 chr11:65835872-65835890 chr11:65835867-65835888 chr11:65835873-65835889 chr11:65835877-65835885
33	POLR2A	chr11:65836814-65838366	GM12878	blood:	n/a	n/a
34	E2F6	chr11:65838073-65838435	K562	blood:	n/a	chr11:65838316-65838328
35	SIN3AK20	chr11:65836737-65839079	MCF-7	breast:	n/a	n/a
36	POLR2A	chr11:65836220-65838365	GM12892	blood:	n/a	n/a
37	POLR2A	chr11:65836455-65838775	MCF-7	breast:	n/a	n/a
38	RUNX3	chr11:65838118-65838388	GM12878	blood:	n/a	n/a
39	POLR2A	chr11:65836432-65838378	GM12878	blood:	n/a	n/a
40	SIN3AK20	chr11:65838337-65838683	PFSK-1	brain:	n/a	n/a
41	YY1	chr11:65837847-65838356	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr11:65837117-65838357	A549	lung:	n/a	n/a
43	POLR2A	chr11:65837459-65838371	Gliobla	brain:	n/a	n/a
44	YY1	chr11:65837538-65838343	K562	blood:	n/a	n/a
45	MAZ	chr11:65836913-65838346	Hela-S3	cervix:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
46	YY1	chr11:65837753-65838348	ECC-1	luminal epithelium:	n/a	n/a
47	MAX	chr11:65838020-65838476	ECC-1	luminal epithelium:	n/a	n/a
48	ELF1	chr11:65837165-65838675	GM12878	blood:	n/a	chr11:65837339-65837351 chr11:65838641-65838653
49	POLR2A	chr11:65836455-65838886	K562	blood:	n/a	n/a
50	UBTF	chr11:65837358-65838725	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65654924..65660442-chr11:65834310..65838665,6	K562	blood:
2	chr11:65816864..65823380-chr11:65832037..65840391,16	MCF-7	breast:
3	chr11:65812922..65815510-chr11:65837744..65839701,2	K562	blood:
4	chr11:65836209..65839625-chr11:66023244..66027607,5	K562	blood:
5	chr11:65654814..65656550-chr11:65837621..65839885,2	MCF-7	breast:
6	chr11:65836630..65840121-chr11:66032259..66035828,5	MCF-7	breast:
7	chr11:65779081..65782393-chr11:65836476..65839425,3	MCF-7	breast:
8	chr11:65837353..65839732-chr11:66024702..66027312,4	MCF-7	breast:
9	chr11:65835858..65838956-chr11:66027814..66030508,4	MCF-7	breast:
10	chr11:65788387..65789947-chr11:65837601..65839297,2	K562	blood:
11	chr11:65836209..65839676-chr11:66023244..66028603,5	K562	blood:
12	chr11:65654924..65661575-chr11:65833688..65838665,10	K562	blood:
13	chr11:65826244..65833224-chr11:65834439..65839387,11	MCF-7	breast:
14	chr11:65837641..65839546-chr11:66050688..66053288,2	K562	blood:
15	chr11:65768121..65772581-chr11:65835630..65838620,4	MCF-7	breast:
16	chr11:65623430..65625691-chr11:65837839..65839866,2	K562	blood:

Variant related genes	Relation type
ENSG00000255038	TF binding region
ENSG00000174851	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000175315	Chromatin interaction
ENSG00000254461	Chromatin interaction
ENSG00000174996	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000254762	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000175294	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000254855	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000175229	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
3	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	esv3321690	chr11:65835376-65839974	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
7	esv3377128	chr11:65836776-65839324	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
8	esv3340048	chr11:65837001-65839549	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65836800-65839000	Active TSS	Primary T cells from cord blood	blood
2	chr11:65836800-65839600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr11:65837000-65838400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:65837000-65838400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:65837000-65838800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr11:65837000-65838800	Active TSS	Brain Substantia Nigra	brain
7	chr11:65837000-65839000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr11:65837000-65839000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr11:65837000-65839200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr11:65837000-65839200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr11:65837000-65839200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr11:65837000-65839400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:65837000-65839600	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr11:65837000-65839800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:65837200-65838400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr11:65837200-65838600	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr11:65837200-65838600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr11:65837200-65838600	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr11:65837200-65838600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:65837200-65838600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:65837200-65838600	Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr11:65837200-65838600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:65837200-65838600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:65837200-65838600	Active TSS	Brain Angular Gyrus	brain
25	chr11:65837200-65838600	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr11:65837200-65838600	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr11:65837200-65838600	Active TSS	Fetal Intestine Small	intestine
28	chr11:65837200-65838600	Active TSS	Fetal Lung	lung
29	chr11:65837200-65838600	Active TSS	Fetal Stomach	stomach
30	chr11:65837200-65838600	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr11:65837200-65838600	Active TSS	Hela-S3	cervix
32	chr11:65837200-65838600	Active TSS	NHEK	skin
33	chr11:65837200-65838800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:65837200-65838800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:65837200-65838800	Active TSS	Brain Cingulate Gyrus	brain
36	chr11:65837200-65838800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:65837200-65838800	Active TSS	Colon Smooth Muscle	Colon
38	chr11:65837200-65838800	Active TSS	Duodenum Mucosa	Duodenum
39	chr11:65837200-65838800	Active TSS	Fetal Intestine Large	intestine
40	chr11:65837200-65838800	Active TSS	Spleen	Spleen
41	chr11:65837200-65839000	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr11:65837200-65839000	Active TSS	Ovary	ovary
43	chr11:65837200-65839000	Active TSS	Pancreas	Pancrea
44	chr11:65837200-65839000	Active TSS	Small Intestine	intestine
45	chr11:65837200-65839200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:65837200-65839200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:65837200-65839200	Active TSS	Aorta	Aorta
48	chr11:65837200-65839200	Active TSS	Esophagus	oesophagus
49	chr11:65837200-65839200	Active TSS	Gastric	stomach
50	chr11:65837200-65839200	Active TSS	Left Ventricle	heart

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