Variant report

Variant	rs56758819
Chromosome Location	chr1:155740548-155740549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1094462	1.00[EUR][1000 genomes]
rs11803678	1.00[EUR][1000 genomes]
rs13374129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13376121	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13376235	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1624846	1.00[EUR][1000 genomes]
rs16837037	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16837063	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs171167	0.90[EUR][1000 genomes]
rs1749415	0.80[EUR][1000 genomes]
rs1749417	0.84[EUR][1000 genomes]
rs1749421	1.00[EUR][1000 genomes]
rs1765284	0.97[EUR][1000 genomes]
rs1962247	0.95[EUR][1000 genomes]
rs2363012	0.80[EUR][1000 genomes]
rs2477541	1.00[EUR][1000 genomes]
rs2686255	1.00[EUR][1000 genomes]
rs28574887	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2985708	0.95[EUR][1000 genomes]
rs348206	0.90[EUR][1000 genomes]
rs35044707	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41264969	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4253908	0.95[EUR][1000 genomes]
rs4612618	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4933	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4971065	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4971086	0.82[EUR][1000 genomes]
rs4971087	0.82[EUR][1000 genomes]
rs4971106	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs543854	0.90[EUR][1000 genomes]
rs548809	0.90[EUR][1000 genomes]
rs552778	0.95[EUR][1000 genomes]
rs59706606	1.00[EUR][1000 genomes]
rs59791187	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61258690	0.85[EUR][1000 genomes]
rs621181	0.95[EUR][1000 genomes]
rs682020	1.00[EUR][1000 genomes]
rs708612	0.95[EUR][1000 genomes]
rs73001021	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7525057	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7530726	0.80[EUR][1000 genomes]
rs7535158	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs822016	1.00[EUR][1000 genomes]
rs822018	1.00[EUR][1000 genomes]
rs822019	1.00[EUR][1000 genomes]
rs822020	1.00[EUR][1000 genomes]
rs822022	1.00[EUR][1000 genomes]
rs822026	0.95[EUR][1000 genomes]
rs822482	0.80[EUR][1000 genomes]
rs822497	0.80[EUR][1000 genomes]
rs822499	0.80[EUR][1000 genomes]
rs822523	0.80[EUR][1000 genomes]
rs9426929	0.95[EUR][1000 genomes]
rs9427223	0.95[EUR][1000 genomes]

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	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	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
4	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155715400-155789200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:155715600-155764600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:155716000-155793400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:155716600-155781800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:155717200-155761000	Strong transcription	Fetal Stomach	stomach
6	chr1:155717400-155795800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:155717600-155750200	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:155720200-155745400	Strong transcription	Fetal Muscle Leg	muscle
9	chr1:155720200-155748600	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:155720200-155748800	Strong transcription	Duodenum Mucosa	Duodenum
11	chr1:155720200-155748800	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr1:155720200-155749000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:155720200-155749600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:155720200-155750200	Strong transcription	Primary T cells from cord blood	blood
15	chr1:155720200-155750600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:155720200-155755800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:155720200-155756200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:155720200-155756600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:155720200-155798200	Strong transcription	Fetal Thymus	thymus
20	chr1:155720200-155803600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:155720400-155743200	Strong transcription	Stomach Smooth Muscle	stomach
22	chr1:155720400-155743200	Strong transcription	Thymus	Thymus
23	chr1:155720400-155750200	Strong transcription	Adipose Nuclei	Adipose
24	chr1:155720400-155750400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:155720400-155750600	Strong transcription	Dnd41	blood
26	chr1:155720400-155755600	Strong transcription	Placenta	Placenta
27	chr1:155720400-155756400	Strong transcription	Liver	Liver
28	chr1:155720400-155760800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr1:155720400-155796800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:155720600-155743200	Strong transcription	Fetal Brain Female	brain
31	chr1:155720600-155743600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:155720600-155757200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:155720800-155741800	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:155720800-155742800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:155720800-155743000	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr1:155720800-155747600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr1:155720800-155749000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:155721000-155748800	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:155722800-155740800	Strong transcription	Fetal Kidney	kidney
40	chr1:155725000-155748600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr1:155726000-155743000	Strong transcription	Lung	lung
42	chr1:155726000-155747400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:155727200-155754200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:155728600-155747600	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr1:155729400-155747600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:155730400-155764200	Weak transcription	Psoas Muscle	Psoas
47	chr1:155730800-155748000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:155731000-155748800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:155732200-155789200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr1:155732400-155755600	Strong transcription	Fetal Intestine Large	intestine

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