Variant report

Variant	rs78504679
Chromosome Location	chr1:171810019-171810020
allele	A/G
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	CTBP2	chr1:171809927-171811753	H1-hESC	embryonic stem cell:	n/a	n/a
2	GATA2	chr1:171809725-171811031	SH-SY5Y	brain:	n/a	n/a
3	SIN3A	chr1:171809832-171811934	H1-hESC	embryonic stem cell:	n/a	chr1:171811057-171811066 chr1:171810699-171810712 chr1:171810986-171810997
4	REST	chr1:171809983-171812296	H1-neurons	neurons:	n/a	chr1:171810499-171810512 chr1:171810699-171810712 chr1:171811273-171811293 chr1:171811108-171811121 chr1:171811780-171811793 chr1:171810391-171810409 chr1:171810714-171810727 chr1:171810693-171810706
5	MAX	chr1:171809956-171811178	A549	lung:	n/a	chr1:171811164-171811174
6	JUND	chr1:171809840-171810507	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr1:171810008-171810724	HUVEC	blood vessel:	n/a	n/a
8	ZNF263	chr1:171809877-171810972	HEK293-T-REx	kidney:	n/a	n/a
9	MXI1	chr1:171809663-171812043	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171808145..171810484-chr1:171812590..171815013,2	MCF-7	breast:
2	chr1:171810010..171810826-chr15:65588123..65588647,2	Hela-S3	cervix:

Variant related genes	Relation type
DNM3	TF binding region
ENSG00000199568	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3325612	chr1:171809554-171812102	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171804400-171810200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:171809600-171810600	ZNF genes & repeats	Liver	Liver
3	chr1:171809800-171810200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:171809800-171810200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:171809800-171810200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr1:171809800-171810200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr1:171809800-171810200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
8	chr1:171809800-171810200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
9	chr1:171809800-171810200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
10	chr1:171809800-171810200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:171809800-171810200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr1:171809800-171810200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:171809800-171810200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:171809800-171810200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:171809800-171810200	Flanking Active TSS	Brain Angular Gyrus	brain
16	chr1:171809800-171810200	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr1:171809800-171810200	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr1:171809800-171810200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr1:171809800-171810200	Flanking Active TSS	Brain Substantia Nigra	brain
20	chr1:171809800-171810200	Flanking Active TSS	Fetal Brain Male	brain
21	chr1:171809800-171810200	Enhancers	Right Ventricle	heart
22	chr1:171809800-171810200	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr1:171809800-171810200	Flanking Active TSS	A549	lung
24	chr1:171809800-171810200	Flanking Active TSS	Hela-S3	cervix
25	chr1:171809800-171810200	Flanking Active TSS	NHDF-Ad	bronchial
26	chr1:171809800-171810400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr1:171809800-171810400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:171809800-171810400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:171809800-171810400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:171809800-171810600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:171809800-171810600	Flanking Active TSS	HMEC	breast
32	chr1:171809800-171810800	Active TSS	Stomach Smooth Muscle	stomach
33	chr1:171809800-171811200	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
34	chr1:171809800-171811200	Active TSS	NHLF	lung
35	chr1:171809800-171811400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:171809800-171811400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:171809800-171811400	Active TSS	HSMM	muscle
38	chr1:171809800-171811600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr1:171809800-171811600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:171809800-171811800	Active TSS	Rectal Smooth Muscle	rectum
41	chr1:171809800-171812000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:171809800-171812000	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr1:171809800-171812200	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr1:171809800-171812600	Active TSS	Brain Hippocampus Middle	brain
45	chr1:171809800-171812600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:171809800-171813800	Active TSS	Brain Cingulate Gyrus	brain
47	chr1:171810000-171810200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:171810000-171810200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr1:171810000-171810200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:171810000-171810200	Flanking Active TSS	Primary hematopoietic stem cells	blood

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