Variant report

Variant	rs34255955
Chromosome Location	chr11:65655539-65655540
allele	C/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	CTCF	chr11:65654850-65657446	SK-N-SH	brain:	n/a	chr11:65656106-65656119
2	RAD21	chr11:65655359-65656794	IMR90	lung:	n/a	chr11:65656248-65656260 chr11:65655946-65655960
3	STAT5A	chr11:65655419-65656763	GM12878	blood:	n/a	chr11:65655741-65655753 chr11:65656011-65656031 chr11:65656347-65656354
4	GABPA	chr11:65655429-65656679	A549	lung:	n/a	chr11:65655738-65655747 chr11:65656387-65656398
5	ETS1	chr11:65655489-65656239	K562	blood:	n/a	chr11:65656014-65656023 chr11:65655738-65655749 chr11:65656094-65656105 chr11:65655959-65655970 chr11:65656014-65656023 chr11:65656111-65656124 chr11:65655961-65655970 chr11:65656215-65656229 chr11:65655901-65655914 chr11:65656012-65656023 chr11:65655961-65655970 chr11:65656221-65656228 chr11:65656012-65656022 chr11:65655959-65655969
6	CTCF	chr11:65655440-65655590	HMEC	breast:	n/a	n/a
7	CTCF	chr11:65655462-65655549	GM19240	blood:	n/a	n/a
8	KAP1	chr11:65655480-65656592	U2OS	brain:	n/a	n/a
9	CTCF	chr11:65655443-65655564	NHEK	skin:	n/a	n/a
10	ELF1	chr11:65655488-65656560	GM12878	blood:	n/a	chr11:65655962-65655971 chr11:65656015-65656024 chr11:65655961-65655972 chr11:65656014-65656025 chr11:65655961-65655972
11	MAX	chr11:65655268-65656890	A549	lung:	n/a	chr11:65655739-65655749
12	MYC	chr11:65655497-65656625	NB4	blood:	n/a	chr11:65655739-65655749
13	POLR2A	chr11:65654926-65656797	SK-N-MC	brain:	n/a	n/a
14	SPI1	chr11:65655375-65656499	HL-60	blood:	n/a	n/a
15	POLR2A	chr11:65654632-65669034	U87	brain:	n/a	n/a
16	ZKSCAN1	chr11:65655414-65656589	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr11:65655420-65655570	BJ	skin:	n/a	n/a
18	ZNF263	chr11:65655304-65656286	K562	blood:	n/a	n/a
19	POLR2A	chr11:65655284-65657061	ProgFib	skin:	n/a	n/a
20	ELF1	chr11:65655369-65656862	SK-N-SH	brain:	n/a	chr11:65655962-65655971 chr11:65656015-65656024 chr11:65655961-65655972 chr11:65656014-65656025 chr11:65655961-65655972
21	SIN3A	chr11:65655435-65656295	GM12878	blood:	n/a	n/a
22	HA-E2F1	chr11:65655338-65656299	MCF-7	breast:	n/a	chr11:65656046-65656058 chr11:65655944-65655953 chr11:65655765-65655774 chr11:65655738-65655747
23	E2F6	chr11:65655295-65656586	A549	lung:	n/a	chr11:65656046-65656058 chr11:65655944-65655953 chr11:65655765-65655774 chr11:65655738-65655747 chr11:65656047-65656058 chr11:65656058-65656069
24	NFIC	chr11:65655336-65656335	GM12878	blood:	n/a	chr11:65655929-65655957
25	PML	chr11:65655434-65657029	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:65655369-65656337	Hela-S3	cervix:	n/a	n/a
27	MYC	chr11:65655436-65655592	MCF-7	breast:	n/a	n/a
28	MAX	chr11:65655267-65656592	H1-hESC	embryonic stem cell:	n/a	chr11:65655739-65655749
29	RCOR1	chr11:65655430-65656911	K562	blood:	n/a	n/a
30	MYC	chr11:65655362-65655585	MCF-7	breast:	n/a	n/a
31	RUNX3	chr11:65655262-65656894	GM12878	blood:	n/a	n/a
32	E2F6	chr11:65655446-65656446	K562	blood:	n/a	chr11:65656046-65656058 chr11:65655944-65655953 chr11:65655765-65655774 chr11:65655738-65655747 chr11:65656047-65656058 chr11:65656058-65656069
33	MAX	chr11:65655189-65656699	K562	blood:	n/a	chr11:65655739-65655749
34	SIN3A	chr11:65655370-65656766	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr11:65655144-65662194	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr11:65655269-65656390	HL-60	blood:	n/a	n/a
37	MAX	chr11:65655420-65656186	HepG2	liver:	n/a	chr11:65655739-65655749
38	CTCF	chr11:65655460-65655610	GM12864	blood:	n/a	n/a
39	POLR2A	chr11:65655375-65656933	HUVEC	blood vessel:	n/a	n/a
40	GABPA	chr11:65655266-65656654	MCF-7	breast:	n/a	chr11:65655738-65655747 chr11:65656387-65656398
41	GABPA	chr11:65655458-65656379	HL-60	blood:	n/a	chr11:65655738-65655747
42	RFX5	chr11:65655450-65656285	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr11:65655474-65655603	GM12892	blood:	n/a	n/a
44	BCLAF1	chr11:65655431-65656640	GM12878	blood:	n/a	chr11:65655961-65655970 chr11:65655898-65655911 chr11:65655896-65655909 chr11:65656014-65656023
45	CTCF	chr11:65655357-65656271	K562	blood:	n/a	chr11:65656106-65656119
46	CTCF	chr11:65655408-65655620	MCF-7	breast:	n/a	n/a
47	CTCF	chr11:65655440-65655590	AG10803	skin:	n/a	n/a
48	CTCF	chr11:65655456-65655589	GM19238	blood:	n/a	n/a
49	CTCF	chr11:65655480-65655630	GM12871	blood:	n/a	n/a
50	TAF1	chr11:65655413-65656583	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:75489753..75490255-chr11:65655516..65656143,2	Hela-S3	cervix:
2	chr11:65651325..65654107-chr11:65654178..65656416,6	MCF-7	breast:
3	chr11:65654814..65656550-chr11:65837621..65839885,2	MCF-7	breast:
4	chr11:65650800..65661192-chr11:65726307..65736419,31	MCF-7	breast:
5	chr11:65652640..65657924-chr11:65769844..65772901,4	MCF-7	breast:
6	chr11:65428955..65432251-chr11:65654758..65658672,5	K562	blood:
7	chr11:65381281..65383865-chr11:65653428..65656647,3	MCF-7	breast:
8	chr11:65551697..65554555-chr11:65655334..65658299,2	K562	blood:
9	chr11:65654573..65660022-chr11:65726606..65732418,16	MCF-7	breast:
10	chr11:65650579..65663306-chr11:65677153..65690311,39	MCF-7	breast:
11	chr11:65654594..65656480-chr11:65848880..65851795,2	K562	blood:
12	chr11:65478611..65480184-chr11:65654546..65656636,2	MCF-7	breast:
13	chr11:65343312..65345815-chr11:65654213..65655812,2	MCF-7	breast:
14	chr11:65654924..65661575-chr11:65833688..65838665,10	K562	blood:
15	chr11:65478350..65482284-chr11:65653854..65660529,8	K562	blood:
16	chr11:65557488..65562536-chr11:65655379..65657877,5	K562	blood:
17	chr11:65654924..65660442-chr11:65834310..65838665,6	K562	blood:
18	chr11:65429800..65432139-chr11:65653071..65655699,2	MCF-7	breast:
19	chr11:65485673..65489789-chr11:65654054..65658887,6	K562	blood:
20	chr11:65655400..65657605-chr11:65778805..65780715,2	MCF-7	breast:
21	chr11:65477188..65481209-chr11:65654091..65661409,11	K562	blood:
22	chr11:65557488..65560218-chr11:65655379..65657652,3	K562	blood:
23	chr11:65478149..65481961-chr11:65654535..65657747,6	MCF-7	breast:
24	chr11:65654406..65656554-chr11:65818022..65819720,2	MCF-7	breast:
25	chr11:65430147..65430830-chr11:65655472..65656031,2	MCF-7	breast:
26	chr11:65646632..65650808-chr11:65654844..65660529,6	MCF-7	breast:

Variant related genes	Relation type
CCDC85B	TF binding region
FIBP	TF binding region
ENSG00000087365	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000172922	Chromatin interaction
ENSG00000255120	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000175315	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000242338	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000271816	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000242288	Chromatin interaction
ENSG00000172543	Chromatin interaction
ENSG00000173442	Chromatin interaction
ENSG00000175115	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2231891	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2234467	1.00[AMR][1000 genomes]
rs34359217	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35496887	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494420	1.00[AMR][1000 genomes]
rs73494422	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
9	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
10	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
11	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
12	nsv530622	chr11:65649068-65661361	Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	65 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	chr11:65654600-65655600	Flanking Active TSS	Brain Germinal Matrix	brain
2	chr11:65654600-65656400	Active TSS	A549	lung
3	chr11:65654600-65657200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:65654800-65655600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:65654800-65655600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:65654800-65655600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr11:65654800-65655600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
8	chr11:65654800-65655800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr11:65654800-65655800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr11:65654800-65656000	Flanking Active TSS	HMEC	breast
11	chr11:65654800-65656600	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr11:65655000-65655600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:65655000-65655600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:65655000-65655600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:65655000-65655600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr11:65655000-65655600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr11:65655000-65655600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:65655000-65655600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:65655000-65655600	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr11:65655000-65655600	Flanking Active TSS	Brain Substantia Nigra	brain
21	chr11:65655000-65655600	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr11:65655000-65655600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr11:65655000-65655600	Flanking Active TSS	Esophagus	oesophagus
24	chr11:65655000-65655600	Flanking Active TSS	Fetal Intestine Large	intestine
25	chr11:65655000-65655600	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr11:65655000-65655600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr11:65655000-65655600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr11:65655000-65655600	Flanking Active TSS	Rectal Smooth Muscle	rectum
29	chr11:65655000-65655600	Flanking Active TSS	HUVEC	blood vessel
30	chr11:65655000-65655800	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr11:65655000-65655800	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr11:65655000-65655800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:65655000-65655800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:65655000-65655800	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr11:65655000-65655800	Flanking Active TSS	Fetal Muscle Trunk	muscle
36	chr11:65655000-65655800	Flanking Active TSS	Placenta	Placenta
37	chr11:65655000-65655800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr11:65655000-65656000	Flanking Active TSS	Colonic Mucosa	Colon
39	chr11:65655000-65656000	Transcr. at gene 5' and 3'	Dnd41	blood
40	chr11:65655000-65656600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr11:65655000-65656800	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr11:65655000-65657000	Flanking Active TSS	Liver	Liver
43	chr11:65655000-65657200	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr11:65655000-65660200	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr11:65655000-65662200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:65655200-65655600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:65655200-65655600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:65655200-65655600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr11:65655200-65655600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr11:65655200-65655600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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