Variant report

Variant	rs561620694
Chromosome Location	chr11:67187523-67187524
allele	-/CT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67187430-67188071	K562	blood:	n/a	n/a
2	POLR2A	chr11:67186803-67188182	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr11:67186845-67189041	K562	blood:	n/a	n/a
4	POLR2A	chr11:67187046-67189184	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67187290..67189722-chr11:67250373..67251986,2	K562	blood:
2	chr11:67186666..67191064-chr11:67273296..67275634,4	K562	blood:
3	chr11:67185700..67187766-chr11:67250423..67251941,2	K562	blood:
4	chr11:67182567..67190511-chr11:67270739..67276166,13	MCF-7	breast:
5	chr11:67186666..67189529-chr11:67272076..67275550,4	K562	blood:
6	chr11:67185544..67187965-chr11:67270918..67273442,2	MCF-7	breast:
7	chr11:67185549..67189385-chr11:67208691..67212904,6	K562	blood:
8	chr11:67147040..67148988-chr11:67186808..67188399,2	K562	blood:
9	chr11:67119033..67122416-chr11:67186034..67189246,4	K562	blood:
10	chr11:67123845..67125865-chr11:67186294..67189193,2	K562	blood:
11	chr11:67186236..67188568-chr11:67242107..67244785,2	MCF-7	breast:

No data

Variant related genes	Relation type
CARNS1	TF binding region
ENSG00000172725	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000110697	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers 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	271 gene(s)	inside rSNPs	diseases
2	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers 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 miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
3	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
5	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription 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 target site	146 gene(s)	inside rSNPs	diseases
6	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
8	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
9	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
10	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
11	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers 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	148 gene(s)	inside rSNPs	diseases
12	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer 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	176 gene(s)	inside rSNPs	diseases
13	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
14	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
15	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription 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	146 gene(s)	inside rSNPs	diseases
16	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
17	nsv897810	chr11:67166310-67196237	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
18	nsv897811	chr11:67166984-67218909	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
19	nsv897812	chr11:67174597-67198887	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
20	nsv897813	chr11:67175692-67283891	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
21	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
22	nsv555255	chr11:67177797-67191449	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
23	esv1847460	chr11:67182600-67219337	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
24	nsv524096	chr11:67186000-67224988	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
25	nsv468604	chr11:67186000-67283891	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
26	nsv555256	chr11:67186000-67283891	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
27	esv1811233	chr11:67186271-67193108	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
28	esv3403555	chr11:67187476-67189674	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67182600-67187600	Enhancers	Rectal Mucosa Donor 29	rectum
2	chr11:67182600-67188000	Enhancers	Spleen	Spleen
3	chr11:67183000-67187600	Enhancers	Fetal Thymus	thymus
4	chr11:67183000-67187600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:67183000-67187600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:67183000-67187800	Enhancers	Primary hematopoietic stem cells	blood
7	chr11:67183000-67188000	Enhancers	Esophagus	oesophagus
8	chr11:67183000-67188000	Enhancers	Fetal Lung	lung
9	chr11:67183200-67187600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:67183200-67188000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:67183400-67187800	Enhancers	Right Ventricle	heart
12	chr11:67183400-67188000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr11:67183400-67188000	Enhancers	Left Ventricle	heart
14	chr11:67183400-67188200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr11:67183400-67188200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr11:67183600-67187600	Weak transcription	Osteobl	bone
17	chr11:67183600-67187800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:67183600-67188000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr11:67183600-67188000	Enhancers	Right Atrium	heart
20	chr11:67183600-67188200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr11:67183800-67187800	Weak transcription	NHDF-Ad	bronchial
22	chr11:67183800-67188000	Enhancers	Gastric	stomach
23	chr11:67184000-67187800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:67184200-67187600	Weak transcription	Aorta	Aorta
25	chr11:67184200-67188200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr11:67184200-67188800	Enhancers	Placenta	Placenta
27	chr11:67184400-67187600	Weak transcription	Colon Smooth Muscle	Colon
28	chr11:67184400-67187800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:67184400-67188000	Enhancers	Psoas Muscle	Psoas
30	chr11:67184600-67187600	Enhancers	Primary B cells from cord blood	blood
31	chr11:67184600-67187600	Weak transcription	Fetal Kidney	kidney
32	chr11:67184600-67187800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:67184600-67187800	Enhancers	Brain Angular Gyrus	brain
34	chr11:67184800-67187600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:67184800-67187800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr11:67184800-67188000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:67184800-67188200	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr11:67185000-67187600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:67185000-67187800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:67185000-67187800	Enhancers	Brain Anterior Caudate	brain
41	chr11:67185200-67187800	Enhancers	Liver	Liver
42	chr11:67185400-67187800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:67185600-67187600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr11:67185600-67187800	Enhancers	Brain Substantia Nigra	brain
45	chr11:67185600-67188000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr11:67185600-67188600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr11:67185800-67187600	Enhancers	Colonic Mucosa	Colon
48	chr11:67186000-67187800	Enhancers	Adipose Nuclei	Adipose
49	chr11:67186000-67188000	Enhancers	HMEC	breast
50	chr11:67186000-67188200	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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