Variant report

Variant	rs575085
Chromosome Location	chr11:65629060-65629061
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	HCFC1	chr11:65623229-65629451	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:65617092-65633870	K562	blood:	n/a	n/a
3	POLR2A	chr11:65616755-65639999	U87	brain:	n/a	n/a
4	MXI1	chr11:65623287-65629335	SK-N-SH	brain:	n/a	chr11:65626884-65626899 chr11:65624499-65624508
5	CTCF	chr11:65626410-65629073	SK-N-SH	brain:	n/a	chr11:65628612-65628621 chr11:65626908-65626921 chr11:65626733-65626746
6	POLR2A	chr11:65623190-65629062	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr11:65616422-65629961	H1-hESC	embryonic stem cell:	n/a	n/a
8	PML	chr11:65623798-65629060	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:65617073-65630131	GM12892	blood:	n/a	n/a
10	SIN3AK20	chr11:65626515-65629127	MCF-7	breast:	n/a	n/a
11	ELF1	chr11:65626558-65629104	MCF-7	breast:	n/a	chr11:65627160-65627171 chr11:65627161-65627170 chr11:65627005-65627017
12	POLR2A	chr11:65616706-65640269	U87	brain:	n/a	n/a
13	ZNF263	chr11:65627211-65629796	HEK293-T-REx	kidney:	n/a	chr11:65627462-65627471
14	MXI1	chr11:65623008-65629086	IMR90	lung:	n/a	chr11:65626884-65626899 chr11:65624499-65624508
15	CHD1	chr11:65623793-65629597	IMR90	lung:	n/a	chr11:65627014-65627024 chr11:65627021-65627031 chr11:65625300-65625310 chr11:65625248-65625255 chr11:65624723-65624733
16	POLR2A	chr11:65616541-65630139	GM12878	blood:	n/a	n/a
17	HEY1	chr11:65618698-65629274	K562	blood:	n/a	chr11:65625188-65625203 chr11:65625757-65625772 chr11:65624828-65624843 chr11:65626730-65626745 chr11:65620030-65620045 chr11:65620041-65620056
18	POLR2A	chr11:65616501-65633874	GM12878	blood:	n/a	n/a
19	MTA3	chr11:65623105-65629373	GM12878	blood:	n/a	n/a
20	MAX	chr11:65624034-65629093	A549	lung:	n/a	chr11:65627695-65627705 chr11:65624498-65624507 chr11:65627400-65627407 chr11:65624497-65624508 chr11:65626959-65626969 chr11:65624496-65624509 chr11:65624435-65624445 chr11:65624498-65624507

No.	Distal block	Cell Line	Cell type
1	chr11:65472429..65485450-chr11:65615794..65629774,38	K562	blood:
2	chr11:65264928..65266619-chr11:65627874..65629463,2	MCF-7	breast:
3	chr11:65545624..65552162-chr11:65622017..65629334,15	K562	blood:
4	chr11:65622510..65630779-chr11:65675126..65689187,23	MCF-7	breast:
5	chr11:65626233..65629168-chr11:65768411..65771473,3	MCF-7	breast:
6	chr11:64543629..64546477-chr11:65627505..65629510,2	K562	blood:
7	chr11:65428865..65431305-chr11:65626478..65629718,3	MCF-7	breast:
8	chr11:65377447..65384699-chr11:65622853..65629192,15	MCF-7	breast:
9	chr11:65626619..65631270-chr11:65726316..65731782,7	MCF-7	breast:
10	chr11:65626410..65629243-chr2:70140118..70142563,2	MCF-7	breast:
11	chr11:65381971..65384321-chr11:65627424..65629349,2	K562	blood:
12	chr11:65545480..65548295-chr11:65624014..65629369,5	MCF-7	breast:
13	chr11:65545624..65551607-chr11:65624049..65629334,14	K562	blood:
14	chr11:65544951..65562337-chr11:65623093..65630859,34	MCF-7	breast:
15	chr11:65477884..65488010-chr11:65623516..65630419,28	MCF-7	breast:
16	chr11:65624197..65629461-chr11:65817994..65821738,6	K562	blood:
17	chr11:65477240..65482056-chr11:65622069..65629377,17	MCF-7	breast:
18	chr11:65624095..65629782-chr11:65682347..65689302,13	MCF-7	breast:
19	chr11:65476077..65482461-chr11:65623301..65629774,23	K562	blood:

Variant related genes	Relation type
CFL1	TF binding region
MUS81	TF binding region
ENSG00000087365	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000255120	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000172922	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000059728	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000172818	Chromatin interaction

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

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

rs_ID	r²[population]
rs11227385	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11825885	1.00[TSI][hapmap]
rs12288911	1.00[TSI][hapmap]
rs61740577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs684372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7940700	1.00[TSI][hapmap]

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	nsv897763	chr11:65613348-65644027	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	121 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv897766	chr11:65624025-65644027	Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65623800-65629200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:65624200-65629200	Active TSS	Small Intestine	intestine
3	chr11:65624400-65629200	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr11:65624400-65629400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr11:65624400-65629600	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr11:65626000-65629200	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr11:65627600-65629200	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr11:65627800-65629400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr11:65628200-65629200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr11:65628200-65629200	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr11:65628200-65629200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr11:65628200-65629400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
13	chr11:65628200-65629800	Transcr. at gene 5' and 3'	Dnd41	blood
14	chr11:65628200-65633600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:65628400-65629200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr11:65628400-65629200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:65628400-65629200	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr11:65628400-65629200	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr11:65628400-65629200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:65628400-65629200	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr11:65628400-65629200	Flanking Active TSS	Placenta	Placenta
22	chr11:65628400-65629200	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr11:65628400-65629400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr11:65628400-65629400	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr11:65628400-65629400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr11:65628400-65629400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:65628400-65629400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr11:65628400-65629600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:65628400-65629600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr11:65628400-65629600	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
31	chr11:65628600-65629200	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr11:65628600-65629200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr11:65628600-65629200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr11:65628600-65629200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr11:65628600-65629200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr11:65628600-65629200	Flanking Active TSS	Fetal Lung	lung
37	chr11:65628600-65629200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr11:65628600-65629200	Flanking Active TSS	Right Ventricle	heart
39	chr11:65628600-65629200	Flanking Active TSS	Thymus	Thymus
40	chr11:65628600-65629400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr11:65628600-65629400	Flanking Active TSS	HUVEC	blood vessel
42	chr11:65628600-65629600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr11:65628600-65629600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:65628600-65629600	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr11:65628600-65629600	Flanking Active TSS	HSMM	muscle
46	chr11:65628600-65629800	Flanking Active TSS	NH-A	brain
47	chr11:65628800-65629200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:65628800-65629200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:65628800-65629200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:65628800-65629200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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