Variant report

Variant	rs571694272
Chromosome Location	chr1:179330053-179330054
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:179329778-179330058	HepG2	liver:	n/a	chr1:179329888-179329901

No.	Distal block	Cell Line	Cell type
1	chr1:179324764..179330437-chr1:179332106..179336685,6	K562	blood:
2	chr1:179323629..179325492-chr1:179329945..179332466,2	MCF-7	breast:
3	chr1:179049229..179051266-chr1:179328606..179330148,2	MCF-7	breast:
4	chr1:179319158..179320695-chr1:179327831..179330357,2	K562	blood:
5	chr1:179329907..179332888-chr1:179333300..179336235,2	MCF-7	breast:

Variant related genes	Relation type
AXDND1	TF binding region
RN7SL374P	TF binding region
ENSG00000162779	Chromatin interaction
ENSG00000263633	Chromatin interaction
ENSG00000186283	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005278	chr1:179197645-179371395	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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 miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv1804302	chr1:179315357-179333194	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv548277	chr1:179319868-179333194	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv1809332	chr1:179320578-179333194	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
5	esv2762031	chr1:179323738-179375197	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv548278	chr1:179323919-179333194	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv518403	chr1:179323919-179371973	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv548279	chr1:179323919-179390148	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	esv1814621	chr1:179326323-179333194	Strong transcription Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv548280	chr1:179326323-179333194	Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv3453131	chr1:179327629-179332727	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv3453132	chr1:179327629-179332727	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	esv3523650	chr1:179328529-179335027	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
14	esv33901	chr1:179328708-179344905	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	esv3523651	chr1:179328979-179334877	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
16	esv3523653	chr1:179328979-179334877	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	esv20900	chr1:179329828-179335094	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
18	esv1804822	chr1:179329878-179333194	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	esv1805285	chr1:179329878-179333194	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	esv1805560	chr1:179329878-179333194	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	esv1806317	chr1:179329878-179333194	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	esv1808410	chr1:179329878-179333194	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	esv1809523	chr1:179329878-179333194	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
24	esv1811439	chr1:179329878-179333194	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
25	esv1813601	chr1:179329878-179333194	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
26	nsv548281	chr1:179329899-179332827	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
27	nsv548282	chr1:179329899-179333098	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
28	esv1804203	chr1:179329899-179333194	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
29	esv1805581	chr1:179329899-179333194	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
30	esv1807013	chr1:179329899-179333194	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
31	esv1807489	chr1:179329899-179333194	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
32	esv1808030	chr1:179329899-179333194	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
33	esv1811464	chr1:179329899-179333194	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
34	esv1812160	chr1:179329899-179333194	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
35	esv1813519	chr1:179329899-179333194	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
36	nsv548283	chr1:179329899-179333194	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
37	nsv548284	chr1:179329899-179334801	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
38	nsv548285	chr1:179329899-179334934	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
39	esv3371887	chr1:179330029-179334927	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179264800-179334200	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:179300400-179334600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:179305600-179334200	Weak transcription	Pancreas	Pancrea
4	chr1:179312600-179334400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:179314800-179334400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:179315000-179334400	Weak transcription	Brain Substantia Nigra	brain
7	chr1:179315000-179334400	Weak transcription	Left Ventricle	heart
8	chr1:179315400-179334400	Weak transcription	Fetal Kidney	kidney
9	chr1:179315600-179334400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:179315800-179334200	Weak transcription	Fetal Thymus	thymus
11	chr1:179316000-179334000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:179316000-179334200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:179316000-179334400	Weak transcription	Fetal Brain Female	brain
14	chr1:179316000-179334400	Weak transcription	Ovary	ovary
15	chr1:179316400-179332800	Weak transcription	Fetal Intestine Small	intestine
16	chr1:179317600-179334400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:179319200-179334400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:179319800-179334000	Weak transcription	HepG2	liver
19	chr1:179319800-179334200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:179320000-179334600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:179320800-179334000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:179320800-179334200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:179320800-179334400	Weak transcription	Fetal Lung	lung
24	chr1:179321000-179334200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:179321200-179334400	Weak transcription	Fetal Stomach	stomach
26	chr1:179321200-179334400	Weak transcription	Lung	lung
27	chr1:179322400-179334200	Weak transcription	Primary B cells from cord blood	blood
28	chr1:179323000-179330600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:179323000-179333400	Weak transcription	Placenta	Placenta
30	chr1:179323000-179334200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:179323000-179334200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:179323000-179334200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:179323000-179334400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:179323000-179334400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:179323000-179334400	Weak transcription	NH-A	brain
36	chr1:179323000-179334400	Weak transcription	Osteobl	bone
37	chr1:179323200-179330200	Weak transcription	Brain Anterior Caudate	brain
38	chr1:179323200-179330600	Weak transcription	HMEC	breast
39	chr1:179323200-179334200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:179323200-179334200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr1:179323200-179334200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:179323200-179334200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:179323200-179334200	Weak transcription	A549	lung
44	chr1:179323200-179334400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:179323200-179334400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:179323200-179334400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr1:179323200-179334400	Weak transcription	Fetal Heart	heart
48	chr1:179323200-179334400	Weak transcription	Fetal Intestine Large	intestine
49	chr1:179323400-179334000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:179323400-179334200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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