Variant report

Variant	rs565844451
Chromosome Location	chr1:171809878-171809879
allele	G/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	GATA2	chr1:171809725-171811031	SH-SY5Y	brain:	n/a	n/a
2	SIN3A	chr1:171809832-171811934	H1-hESC	embryonic stem cell:	n/a	chr1:171811057-171811066 chr1:171810699-171810712 chr1:171810986-171810997
3	JUND	chr1:171809840-171810507	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZNF263	chr1:171809877-171810972	HEK293-T-REx	kidney:	n/a	n/a
5	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:

Variant related genes	Relation type
DNM3	TF binding region

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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171796600-171810000	Weak transcription	Pancreas	Pancrea
2	chr1:171804400-171810200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:171809600-171810000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:171809600-171810000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr1:171809600-171810600	ZNF genes & repeats	Liver	Liver
6	chr1:171809800-171810000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
7	chr1:171809800-171810000	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:171809800-171810000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
9	chr1:171809800-171810000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:171809800-171810000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
11	chr1:171809800-171810000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:171809800-171810000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
13	chr1:171809800-171810000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr1:171809800-171810000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr1:171809800-171810000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr1:171809800-171810000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr1:171809800-171810000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr1:171809800-171810000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:171809800-171810000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:171809800-171810000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:171809800-171810000	Enhancers	Colon Smooth Muscle	Colon
22	chr1:171809800-171810000	Enhancers	Esophagus	oesophagus
23	chr1:171809800-171810000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr1:171809800-171810000	Active TSS	Fetal Brain Female	brain
25	chr1:171809800-171810000	Enhancers	Fetal Muscle Trunk	muscle
26	chr1:171809800-171810000	Enhancers	Fetal Stomach	stomach
27	chr1:171809800-171810000	ZNF genes & repeats	Left Ventricle	heart
28	chr1:171809800-171810000	Enhancers	Psoas Muscle	Psoas
29	chr1:171809800-171810000	Enhancers	Small Intestine	intestine
30	chr1:171809800-171810000	Enhancers	GM12878-XiMat	blood
31	chr1:171809800-171810000	Enhancers	HUVEC	blood vessel
32	chr1:171809800-171810000	Enhancers	NHEK	skin
33	chr1:171809800-171810200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:171809800-171810200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:171809800-171810200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr1:171809800-171810200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr1:171809800-171810200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
38	chr1:171809800-171810200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
39	chr1:171809800-171810200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
40	chr1:171809800-171810200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:171809800-171810200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr1:171809800-171810200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:171809800-171810200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:171809800-171810200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:171809800-171810200	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr1:171809800-171810200	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr1:171809800-171810200	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr1:171809800-171810200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr1:171809800-171810200	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr1:171809800-171810200	Flanking Active TSS	Fetal Brain Male	brain

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