Variant report

Variant	rs571671424
Chromosome Location	chr1:212607024-212607025
allele	C/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212541839..212544001-chr1:212606359..212607860,2	MCF-7	breast:
2	chr1:212587912..212590110-chr1:212604889..212609190,4	K562	blood:
3	chr1:212606631..212609505-chr1:212609658..212612237,5	K562	blood:
4	chr1:212585974..212594847-chr1:212598812..212609579,19	K562	blood:
5	chr1:212606338..212608364-chr1:212730714..212733205,2	K562	blood:
6	chr1:212606882..212608476-chr1:212631103..212632696,2	MCF-7	breast:
7	chr1:212607004..212608669-chr1:212617399..212619627,2	MCF-7	breast:
8	chr1:212604504..212608752-chr1:212780786..212783858,6	K562	blood:
9	chr1:212586060..212592297-chr1:212603893..212609565,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction
ENSG00000260805	Chromatin interaction
ENSG00000065600	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	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	esv3389348	chr1:212605479-212607477	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212605600-212607200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr1:212605600-212607200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:212605600-212607200	Active TSS	A549	lung
4	chr1:212605600-212607600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:212605600-212607600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:212605800-212607200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:212605800-212607200	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr1:212605800-212607200	Active TSS	NHDF-Ad	bronchial
9	chr1:212605800-212607200	Active TSS	NHLF	lung
10	chr1:212605800-212607400	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr1:212605800-212607400	Active TSS	Aorta	Aorta
12	chr1:212605800-212607400	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr1:212605800-212607400	Active TSS	Fetal Kidney	kidney
14	chr1:212605800-212607600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:212606000-212607200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr1:212606000-212607200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr1:212606000-212607200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:212606000-212607200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:212606000-212607200	Active TSS	Brain Angular Gyrus	brain
20	chr1:212606000-212607200	Active TSS	Brain Anterior Caudate	brain
21	chr1:212606000-212607200	Active TSS	Brain Cingulate Gyrus	brain
22	chr1:212606000-212607200	Active TSS	Brain Substantia Nigra	brain
23	chr1:212606000-212607200	Active TSS	Fetal Intestine Large	intestine
24	chr1:212606000-212607200	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr1:212606000-212607200	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr1:212606000-212607200	Active TSS	HMEC	breast
27	chr1:212606000-212607200	Active TSS	HSMM	muscle
28	chr1:212606000-212607200	Active TSS	Osteobl	bone
29	chr1:212606000-212607400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:212606000-212607400	Active TSS	Muscle Satellite Cultured Cells	--
31	chr1:212606000-212607600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:212606000-212607600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:212606000-212607800	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr1:212606200-212607200	Active TSS	Fetal Intestine Small	intestine
35	chr1:212606200-212607200	Active TSS	Fetal Lung	lung
36	chr1:212606600-212607200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr1:212606600-212607200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr1:212606600-212607200	Flanking Active TSS	Thymus	Thymus
39	chr1:212606600-212607400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr1:212606600-212607400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:212606600-212607600	Flanking Active TSS	Fetal Brain Female	brain
42	chr1:212606800-212607200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:212606800-212607200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr1:212606800-212607200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr1:212606800-212607200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:212606800-212607200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:212606800-212607200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr1:212606800-212607200	Flanking Active TSS	Liver	Liver
49	chr1:212606800-212607200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr1:212606800-212607200	Flanking Active TSS	Fetal Heart	heart

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