Variant report

Variant	rs545020149
Chromosome Location	chr1:212956215-212956216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212781936..212785514-chr1:212953111..212956420,3	K562	blood:
2	chr1:212872473..212873111-chr1:212955524..212956225,2	MCF-7	breast:
3	chr1:212955485..212957431-chr1:212958159..212961189,3	K562	blood:
4	chr1:212953290..212958548-chr1:212960806..212967767,9	K562	blood:
5	chr1:212838136..212839056-chr1:212955502..212956475,5	K562	blood:
6	chr1:212923248..212923805-chr1:212955689..212956237,2	MCF-7	breast:
7	chr1:212872567..212873252-chr1:212955508..212956261,2	K562	blood:
8	chr1:212838302..212839068-chr1:212955910..212956453,2	MCF-7	breast:
9	chr1:212650238..212651131-chr1:212955932..212956435,2	K562	blood:
10	chr1:212782588..212784090-chr1:212954271..212956784,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000203705	Chromatin interaction
ENSG00000117697	Chromatin interaction
ENSG00000162772	Chromatin interaction
ENSG00000237980	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549148	chr1:212876902-212962207	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2756884	chr1:212925429-213006397	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	esv2758997	chr1:212925429-213006397	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1010003	chr1:212944240-212986996	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
6	nsv947467	chr1:212954839-212957948	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212895400-212964600	Weak transcription	Pancreas	Pancrea
2	chr1:212895600-212964600	Weak transcription	Gastric	stomach
3	chr1:212923600-212963800	Weak transcription	Brain Angular Gyrus	brain
4	chr1:212923600-212964400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:212923800-212957600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:212923800-212964200	Weak transcription	HMEC	breast
7	chr1:212926600-212963400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:212927400-212963400	Weak transcription	Small Intestine	intestine
9	chr1:212927400-212964200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:212936600-212959800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:212936600-212960200	Weak transcription	Lung	lung
12	chr1:212936600-212964400	Weak transcription	Esophagus	oesophagus
13	chr1:212941200-212964200	Weak transcription	Right Ventricle	heart
14	chr1:212942400-212964200	Weak transcription	Aorta	Aorta
15	chr1:212942600-212964400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:212942800-212956400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:212942800-212964200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:212943200-212964200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:212943600-212957800	Weak transcription	Brain Anterior Caudate	brain
20	chr1:212944000-212956800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:212944000-212958000	Weak transcription	Brain Substantia Nigra	brain
22	chr1:212944200-212956800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:212944200-212964400	Weak transcription	Fetal Heart	heart
24	chr1:212945800-212959800	Weak transcription	Ovary	ovary
25	chr1:212948400-212960000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:212950400-212964200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:212950800-212959800	Weak transcription	Fetal Intestine Small	intestine
28	chr1:212951800-212964400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:212952400-212963000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:212952600-212963600	Weak transcription	Colonic Mucosa	Colon
31	chr1:212953000-212959800	Weak transcription	NHEK	skin
32	chr1:212953000-212964400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:212953200-212964400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:212953800-212960200	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr1:212953800-212960200	Strong transcription	HSMM	muscle
36	chr1:212953800-212961000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:212954000-212958400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:212954000-212960600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:212954000-212960600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:212954000-212960600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:212954000-212960800	Strong transcription	Placenta	Placenta
42	chr1:212954000-212961000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:212954000-212961000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:212954000-212961000	Strong transcription	Liver	Liver
45	chr1:212954000-212961000	Strong transcription	Fetal Thymus	thymus
46	chr1:212954000-212961200	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:212954000-212961200	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:212954200-212956800	Strong transcription	Fetal Brain Female	brain
49	chr1:212954200-212956800	Strong transcription	A549	lung
50	chr1:212954200-212957000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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