Variant report

Variant	rs61088491
Chromosome Location	chr11:62572022-62572023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFATC1	chr11:62571995-62573560	GM12878	blood:	n/a	n/a
2	CHD1	chr11:62571315-62574432	IMR90	lung:	n/a	chr11:62573521-62573531
3	POLR2A	chr11:62571982-62574793	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr11:62571865-62573985	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr11:62571655-62575222	HepG2	liver:	n/a	n/a
6	CTCF	chr11:62571900-62572050	AG10803	skin:	n/a	n/a
7	MAFK	chr11:62571779-62573226	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:62570657-62572061	K562	blood:	n/a	n/a
9	SIN3AK20	chr11:62571929-62573586	MCF-7	breast:	n/a	n/a
10	POLR2A	chr11:62571872-62573313	Hela-S3	cervix:	n/a	n/a
11	MXI1	chr11:62571731-62574808	IMR90	lung:	n/a	n/a
12	HCFC1	chr11:62571553-62573518	Hela-S3	cervix:	n/a	n/a
13	MTA3	chr11:62571776-62574468	GM12878	blood:	n/a	n/a
14	FOXM1	chr11:62572001-62572496	GM12878	blood:	n/a	n/a
15	TBL1XR1	chr11:62571708-62573200	K562	blood:	n/a	n/a
16	WRNIP1	chr11:62571625-62573423	GM12878	blood:	n/a	n/a
17	MXI1	chr11:62571741-62573222	Hela-S3	cervix:	n/a	n/a
18	PML	chr11:62571930-62574069	GM12878	blood:	n/a	n/a
19	NRF1	chr11:62571910-62573405	SK-N-SH	brain:	n/a	chr11:62573017-62573028 chr11:62573017-62573031 chr11:62573017-62573028 chr11:62573019-62573028 chr11:62573014-62573028
20	SIN3AK20	chr11:62572003-62573353	K562	blood:	n/a	n/a
21	POLR2A	chr11:62571794-62573369	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:62571861-62573275	Hela-S3	cervix:	n/a	n/a
23	MYC	chr11:62571933-62572371	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr11:62571830-62573453	GM12878	blood:	n/a	n/a
25	NFIC	chr11:62571980-62572468	GM12878	blood:	n/a	n/a
26	ATF2	chr11:62571800-62572390	GM12878	blood:	n/a	n/a
27	RUNX3	chr11:62571980-62573408	GM12878	blood:	n/a	n/a
28	MAZ	chr11:62571830-62573478	IMR90	lung:	n/a	chr11:62573214-62573224 chr11:62571893-62571902
29	ATF2	chr11:62571889-62572546	GM12878	blood:	n/a	n/a
30	MXI1	chr11:62571801-62574358	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr11:62571607-62573578	Hela-S3	cervix:	n/a	n/a
32	HEY1	chr11:62572007-62573352	K562	blood:	n/a	chr11:62572747-62572762
33	CTCF	chr11:62571960-62572110	AG09319	gingival:	n/a	n/a

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62571329..62572865-chr7:87872267..87875199,2	MCF-7	breast:
2	chr11:62377281..62381950-chr11:62571197..62574724,7	K562	blood:
3	chr11:62571979..62572973-chr5:175843123..175843707,2	Hela-S3	cervix:
4	chr11:62494468..62499240-chr11:62571375..62574199,8	MCF-7	breast:
5	chr11:62495188..62497370-chr11:62571398..62573670,2	K562	blood:
6	chr11:62474564..62476753-chr11:62571468..62573235,2	MCF-7	breast:
7	chr11:62367943..62370017-chr11:62571875..62574574,2	K562	blood:
8	chr11:62571830..62574264-chr17:56735013..56737534,2	K562	blood:
9	chr11:62565367..62576307-chr11:62617328..62626616,39	K562	blood:
10	chr11:62340082..62342927-chr11:62571331..62574393,3	K562	blood:
11	chr11:62492968..62497406-chr11:62571474..62575156,6	MCF-7	breast:
12	chr11:62413138..62417262-chr11:62570783..62574085,5	K562	blood:
13	chr11:62431781..62434060-chr11:62571143..62573077,2	K562	blood:
14	chr11:62492600..62497370-chr11:62571015..62573670,8	K562	blood:
15	chr11:62570028..62574835-chr11:62645876..62651719,9	MCF-7	breast:
16	chr11:62519047..62523225-chr11:62570888..62574473,7	MCF-7	breast:
17	chr11:62570378..62573195-chr11:62652914..62655373,2	K562	blood:
18	chr11:62368512..62370789-chr11:62571314..62573375,3	K562	blood:
19	chr11:62472932..62475905-chr11:62571487..62574388,4	K562	blood:
20	chr11:62519528..62525971-chr11:62571539..62574867,10	K562	blood:
21	chr11:62473858..62475905-chr11:62571487..62573051,2	K562	blood:
22	chr11:62529000..62532669-chr11:62570947..62574628,4	K562	blood:
23	chr11:62490888..62495085-chr11:62569701..62574134,8	K562	blood:
24	chr11:62568262..62574296-chr11:62646831..62652869,25	K562	blood:
25	chr11:62519528..62524669-chr11:62571252..62575050,10	K562	blood:
26	chr11:62527475..62529562-chr11:62571999..62573664,3	MCF-7	breast:
27	chr11:62439709..62441455-chr11:62571415..62573029,2	K562	blood:
28	chr11:62571960..62572490-chr15:65596742..65597252,2	Hela-S3	cervix:
29	chr11:62443864..62449143-chr11:62570867..62574736,5	MCF-7	breast:
30	chr11:62431781..62434060-chr11:62571143..62573590,3	K562	blood:
31	chr11:62474806..62478433-chr11:62571000..62575830,4	MCF-7	breast:
32	chr11:62571888..62574540-chr11:62651931..62654541,2	MCF-7	breast:
33	chr11:62356781..62364031-chr11:62570003..62574737,9	K562	blood:

No data

Variant related genes	Relation type
NXF1	TF binding region
ENSG00000202077	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000228113	Chromatin interaction
ENSG00000162188	Chromatin interaction
ENSG00000175416	Chromatin interaction
ENSG00000149489	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000168002	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000185670	Chromatin interaction
ENSG00000149499	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000162191	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000149480	Chromatin interaction
ENSG00000254772	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000149016	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11231220	1.00[AMR][1000 genomes]
rs12270342	1.00[AMR][1000 genomes]
rs12288417	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290152	1.00[AMR][1000 genomes]
rs12292281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12295052	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12295516	1.00[AMR][1000 genomes]
rs28400288	1.00[AMR][1000 genomes]
rs56994557	1.00[AMR][1000 genomes]
rs58003814	1.00[AMR][1000 genomes]
rs58505493	1.00[AMR][1000 genomes]
rs58792209	1.00[AMR][1000 genomes]
rs59143369	1.00[AMR][1000 genomes]
rs73483955	1.00[AMR][1000 genomes]
rs73483965	1.00[AMR][1000 genomes]
rs73483978	1.00[AMR][1000 genomes]
rs73485621	1.00[AMR][1000 genomes]
rs73485634	1.00[AMR][1000 genomes]
rs73485689	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487820	1.00[AMR][1000 genomes]
rs73487823	1.00[AMR][1000 genomes]
rs73487824	1.00[AMR][1000 genomes]
rs73487852	1.00[AMR][1000 genomes]
rs73487868	1.00[AMR][1000 genomes]
rs73502144	1.00[AMR][1000 genomes]

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	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
5	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases
6	nsv508636	chr11:62547114-62644458	Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1195 gene(s)	inside rSNPs	diseases
7	nsv1051308	chr11:62564713-62673136	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases
8	nsv541058	chr11:62564713-62673136	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 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	chr11:62571200-62572200	Flanking Active TSS	Duodenum Mucosa	Duodenum
2	chr11:62571200-62572200	Flanking Active TSS	HMEC	breast
3	chr11:62571200-62572400	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr11:62571200-62572400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:62571200-62573600	Active TSS	Right Ventricle	heart
6	chr11:62571400-62572200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
7	chr11:62571400-62572200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:62571400-62572200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:62571400-62572200	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr11:62571400-62572200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
11	chr11:62571400-62572200	Flanking Active TSS	Fetal Brain Female	brain
12	chr11:62571400-62572200	Flanking Active TSS	Fetal Intestine Small	intestine
13	chr11:62571400-62572200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr11:62571400-62572200	Flanking Active TSS	Rectal Smooth Muscle	rectum
15	chr11:62571400-62572200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr11:62571400-62572200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr11:62571400-62572200	Flanking Active TSS	NHEK	skin
18	chr11:62571400-62572400	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr11:62571400-62572400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:62571400-62572400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr11:62571400-62572400	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr11:62571400-62572400	Flanking Active TSS	Thymus	Thymus
23	chr11:62571400-62572600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr11:62571400-62572600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr11:62571400-62572600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr11:62571400-62572600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:62571400-62572600	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr11:62571400-62572800	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr11:62571400-62573200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:62571400-62573600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:62571400-62573600	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr11:62571400-62573800	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr11:62571600-62572200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:62571600-62572200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr11:62571600-62572200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr11:62571600-62572200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:62571600-62572200	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr11:62571600-62572200	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr11:62571600-62572200	Flanking Active TSS	Fetal Brain Male	brain
40	chr11:62571600-62572200	Flanking Active TSS	Fetal Heart	heart
41	chr11:62571600-62572200	Flanking Active TSS	Fetal Kidney	kidney
42	chr11:62571600-62572200	Flanking Active TSS	Fetal Stomach	stomach
43	chr11:62571600-62572200	Flanking Active TSS	Fetal Thymus	thymus
44	chr11:62571600-62572200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr11:62571600-62572200	Flanking Active TSS	Dnd41	blood
46	chr11:62571600-62572200	Flanking Active TSS	Osteobl	bone
47	chr11:62571600-62572400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:62571600-62572400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr11:62571600-62572400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr11:62571600-62572400	Flanking Active TSS	Brain Anterior Caudate	brain

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