Variant report

Variant	rs551975155
Chromosome Location	chr11:67270883-67270884
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67270781-67271223	K562	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67247191..67252288-chr11:67270350..67277699,12	MCF-7	breast:
2	chr11:67230107..67238941-chr11:67268499..67277838,23	MCF-7	breast:
3	chr11:67269844..67272585-chr11:67351352..67354034,3	K562	blood:
4	chr11:67164456..67171429-chr11:67268926..67279263,19	K562	blood:
5	chr11:67269985..67274388-chr11:67349964..67354078,4	K562	blood:
6	chr11:67182567..67190511-chr11:67270739..67276166,13	MCF-7	breast:
7	chr11:67070027..67071819-chr11:67270841..67273414,2	MCF-7	breast:
8	chr11:67208782..67211032-chr11:67270751..67273545,3	K562	blood:
9	chr11:67270685..67273123-chr11:67274247..67277444,3	K562	blood:
10	chr11:67249912..67253635-chr11:67270546..67273534,5	K562	blood:
11	chr11:67269882..67273775-chr11:67275933..67278364,3	MCF-7	breast:
12	chr11:67207285..67211032-chr11:67270341..67273194,4	K562	blood:
13	chr11:67164491..67170697-chr11:67268115..67277759,17	MCF-7	breast:
14	chr11:67201617..67208575-chr11:67270788..67277143,13	K562	blood:
15	chr11:67168005..67170770-chr11:67269467..67273329,6	K562	blood:

No data

Variant related genes	Relation type
PITPNM1	TF binding region
ENSG00000110711	Chromatin interaction
ENSG00000172508	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000172725	Chromatin interaction
ENSG00000175463	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000255949	Chromatin interaction
ENSG00000213402	Chromatin interaction
ENSG00000084207	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	nsv527056	chr11:67207426-67294308	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
19	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
20	nsv1052919	chr11:67252337-67306030	Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
21	nsv541078	chr11:67252337-67306030	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
22	esv3356975	chr11:67270401-67273249	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67251000-67271000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:67251400-67271200	Weak transcription	HSMM	muscle
3	chr11:67251400-67271400	Weak transcription	HUVEC	blood vessel
4	chr11:67251600-67271400	Weak transcription	NHDF-Ad	bronchial
5	chr11:67252600-67271600	Weak transcription	Psoas Muscle	Psoas
6	chr11:67252800-67271400	Weak transcription	Right Atrium	heart
7	chr11:67254000-67271000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:67254400-67271200	Weak transcription	K562	blood
9	chr11:67254800-67271000	Weak transcription	HepG2	liver
10	chr11:67255800-67272000	Weak transcription	Fetal Kidney	kidney
11	chr11:67257600-67271200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:67257800-67271200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:67258000-67271200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr11:67259800-67271200	Weak transcription	Ovary	ovary
15	chr11:67260000-67271000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:67260400-67271200	Weak transcription	Brain Substantia Nigra	brain
17	chr11:67260400-67271200	Weak transcription	Fetal Lung	lung
18	chr11:67261600-67271400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:67262800-67271400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:67265600-67271400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:67267800-67271000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:67267800-67271000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:67267800-67271200	Weak transcription	Aorta	Aorta
24	chr11:67268200-67271000	Weak transcription	Adipose Nuclei	Adipose
25	chr11:67268400-67271000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:67269200-67271000	Genic enhancers	Primary T cells fromperipheralblood	blood
27	chr11:67269200-67271200	Weak transcription	Liver	Liver
28	chr11:67269200-67271200	Weak transcription	NHEK	skin
29	chr11:67269200-67271400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:67269400-67271200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr11:67269800-67271000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:67269800-67271200	Weak transcription	Osteobl	bone
33	chr11:67270000-67271000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:67270000-67271000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:67270000-67271000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:67270000-67271000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:67270000-67271200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr11:67270000-67271200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr11:67270000-67271200	Weak transcription	Left Ventricle	heart
40	chr11:67270000-67271400	Weak transcription	HSMMtube	muscle
41	chr11:67270000-67271800	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr11:67270000-67272200	Enhancers	Fetal Brain Male	brain
43	chr11:67270200-67271000	Weak transcription	Gastric	stomach
44	chr11:67270200-67271000	Weak transcription	Right Ventricle	heart
45	chr11:67270200-67271000	Genic enhancers	Dnd41	blood
46	chr11:67270200-67271200	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr11:67270200-67271200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr11:67270200-67271200	Weak transcription	NHLF	lung
49	chr11:67270200-67271400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:67270400-67271000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood

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