Variant report

Variant	rs539007853
Chromosome Location	chr1:212612208-212612209
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212606631..212609505-chr1:212609658..212612237,5	K562	blood:
2	chr1:212561364..212563303-chr1:212611566..212613873,2	K562	blood:
3	chr1:212603671..212606491-chr1:212610268..212612398,2	K562	blood:
4	chr1:212592142..212594928-chr1:212610906..212612518,2	K562	blood:
5	chr1:212611206..212613997-chr1:212623720..212626273,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117691	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
6	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
7	nsv873156	chr1:212585092-212646225	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv873157	chr1:212610755-212640982	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv873158	chr1:212610755-212646225	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv873159	chr1:212610755-212669475	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv873160	chr1:212610755-212675482	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv873161	chr1:212610755-212683565	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv873162	chr1:212610755-212716033	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212607000-212614000	Weak transcription	Gastric	stomach
2	chr1:212607000-212623400	Weak transcription	HSMMtube	muscle
3	chr1:212607200-212617400	Weak transcription	Fetal Intestine Large	intestine
4	chr1:212607200-212617600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:212607400-212614000	Weak transcription	Fetal Kidney	kidney
6	chr1:212607400-212617600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:212607400-212617600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:212607400-212618800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:212607400-212622800	Weak transcription	Primary B cells from cord blood	blood
10	chr1:212607400-212625800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:212607400-212626000	Weak transcription	Colonic Mucosa	Colon
12	chr1:212607400-212629200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr1:212607600-212614000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:212607600-212617600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:212607600-212617600	Weak transcription	Placenta	Placenta
16	chr1:212607600-212617800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:212607600-212618000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:212607600-212618000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:212607600-212619000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:212607600-212619000	Weak transcription	Thymus	Thymus
21	chr1:212607600-212619200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:212607600-212620600	Weak transcription	HMEC	breast
23	chr1:212607600-212621800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:212607600-212624000	Weak transcription	Fetal Brain Male	brain
25	chr1:212607600-212625800	Weak transcription	Stomach Mucosa	stomach
26	chr1:212607600-212626000	Weak transcription	NH-A	brain
27	chr1:212607800-212613800	Weak transcription	Psoas Muscle	Psoas
28	chr1:212607800-212614000	Weak transcription	Right Atrium	heart
29	chr1:212607800-212616800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:212607800-212617400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:212607800-212617400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:212607800-212617600	Weak transcription	Primary T cells from cord blood	blood
33	chr1:212607800-212617600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr1:212607800-212617600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr1:212607800-212617600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:212607800-212617600	Weak transcription	Right Ventricle	heart
37	chr1:212607800-212617800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:212607800-212617800	Weak transcription	Adipose Nuclei	Adipose
39	chr1:212607800-212618800	Weak transcription	Brain Germinal Matrix	brain
40	chr1:212607800-212619200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:212607800-212619200	Weak transcription	Fetal Thymus	thymus
42	chr1:212607800-212620000	Weak transcription	Osteobl	bone
43	chr1:212607800-212623400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr1:212607800-212624400	Weak transcription	NHEK	skin
45	chr1:212607800-212625800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr1:212607800-212625800	Weak transcription	NHLF	lung
47	chr1:212607800-212629400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:212608000-212613800	Weak transcription	Esophagus	oesophagus
49	chr1:212608000-212613800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:212608000-212614000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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