Variant report

Variant	rs372780
Chromosome Location	chr1:155698028-155698029
allele	A/C
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	CTCF	chr1:155697974-155698029	GM10266	blood:	n/a	n/a

Variant related genes	Relation type
DAP3	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12066633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12070752	1.00[AMR][1000 genomes]
rs12072627	1.00[AMR][1000 genomes]
rs12075435	0.81[AFR][1000 genomes]
rs12097744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16836999	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58304308	0.90[AFR][1000 genomes]
rs6702507	0.81[AFR][1000 genomes]
rs74116406	1.00[AMR][1000 genomes]
rs7520381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7523409	0.92[AFR][1000 genomes]
rs7546314	0.92[AFR][1000 genomes]
rs7552711	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	esv3381327	chr1:155582853-155718436	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	esv3436971	chr1:155618172-155733386	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	esv3338099	chr1:155618190-155733359	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv3065	chr1:155682768-155727524	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155660200-155698800	Weak transcription	NHLF	lung
2	chr1:155660400-155706200	Weak transcription	Colonic Mucosa	Colon
3	chr1:155661600-155707800	Weak transcription	HUVEC	blood vessel
4	chr1:155663200-155701000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:155665200-155708000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:155665400-155699000	Weak transcription	Right Ventricle	heart
7	chr1:155665600-155707200	Weak transcription	Psoas Muscle	Psoas
8	chr1:155665800-155707000	Weak transcription	Small Intestine	intestine
9	chr1:155669200-155702200	Weak transcription	Gastric	stomach
10	chr1:155672800-155698800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:155673800-155707800	Weak transcription	Aorta	Aorta
12	chr1:155676400-155698600	Weak transcription	Stomach Mucosa	stomach
13	chr1:155676400-155706200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:155677400-155705200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:155679400-155710400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:155679800-155704200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:155681600-155707800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:155683000-155703200	Weak transcription	Spleen	Spleen
19	chr1:155683200-155715000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:155683400-155699200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:155683400-155707800	Weak transcription	Fetal Heart	heart
22	chr1:155683800-155709000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:155683800-155715000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:155684000-155700000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:155684000-155707800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:155685200-155704800	Strong transcription	Fetal Thymus	thymus
27	chr1:155685400-155698200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:155686200-155698800	Weak transcription	Fetal Kidney	kidney
29	chr1:155687200-155715000	Weak transcription	Esophagus	oesophagus
30	chr1:155687600-155699200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:155688400-155705000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:155688400-155711200	Strong transcription	Fetal Muscle Leg	muscle
33	chr1:155688800-155710800	Strong transcription	Fetal Stomach	stomach
34	chr1:155688800-155711000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:155689200-155698600	Weak transcription	Brain Angular Gyrus	brain
36	chr1:155689200-155698600	Weak transcription	Brain Anterior Caudate	brain
37	chr1:155689200-155698600	Weak transcription	Brain Substantia Nigra	brain
38	chr1:155689200-155706000	Weak transcription	Fetal Brain Male	brain
39	chr1:155689200-155709400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:155689800-155701400	Weak transcription	Brain Germinal Matrix	brain
41	chr1:155690200-155706200	Weak transcription	Lung	lung
42	chr1:155690600-155702800	Weak transcription	Fetal Lung	lung
43	chr1:155691000-155709000	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:155691200-155704600	Strong transcription	Placenta	Placenta
45	chr1:155691200-155705200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:155691800-155706200	Weak transcription	NHDF-Ad	bronchial
47	chr1:155692000-155698800	Weak transcription	GM12878-XiMat	blood
48	chr1:155692000-155700200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:155692200-155706200	Weak transcription	Ovary	ovary
50	chr1:155692400-155698800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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