Variant report

Variant	rs1749421
Chromosome Location	chr1:155752544-155752545
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1094462	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11803678	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13374129	1.00[EUR][1000 genomes]
rs13376121	0.80[EUR][1000 genomes]
rs13376235	0.80[EUR][1000 genomes]
rs1624846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16837037	1.00[EUR][1000 genomes]
rs16837063	0.80[EUR][1000 genomes]
rs171167	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1749415	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1749417	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1765284	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1962247	0.95[EUR][1000 genomes]
rs2363012	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2477541	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2686255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28460554	0.82[AFR][1000 genomes]
rs28574887	1.00[EUR][1000 genomes]
rs2985708	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs348206	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35044707	1.00[EUR][1000 genomes]
rs41264969	0.95[EUR][1000 genomes]
rs4253908	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4612618	1.00[EUR][1000 genomes]
rs4933	0.95[EUR][1000 genomes]
rs4971065	0.80[EUR][1000 genomes]
rs4971086	0.82[EUR][1000 genomes]
rs4971087	0.82[EUR][1000 genomes]
rs4971106	0.80[EUR][1000 genomes]
rs543854	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs548809	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs552778	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56758819	1.00[EUR][1000 genomes]
rs59706606	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59791187	1.00[EUR][1000 genomes]
rs61258690	0.85[EUR][1000 genomes]
rs621181	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs682020	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs708612	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73001021	1.00[EUR][1000 genomes]
rs7525057	0.90[EUR][1000 genomes]
rs7530726	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7535158	0.90[EUR][1000 genomes]
rs822016	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs822018	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs822019	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs822020	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs822022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs822026	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs822482	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs822488	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs822495	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs822497	0.80[EUR][1000 genomes]
rs822499	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs822500	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs822523	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9426929	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9427223	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv872469	chr1:155743310-155810293	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr1:155720200-155755800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:155720200-155756200	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:155720200-155756600	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:155720200-155798200	Strong transcription	Fetal Thymus	thymus
11	chr1:155720200-155803600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:155720400-155755600	Strong transcription	Placenta	Placenta
13	chr1:155720400-155756400	Strong transcription	Liver	Liver
14	chr1:155720400-155760800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr1:155720400-155796800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:155720600-155757200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:155727200-155754200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:155730400-155764200	Weak transcription	Psoas Muscle	Psoas
19	chr1:155732200-155789200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:155732400-155755600	Strong transcription	Fetal Intestine Large	intestine
21	chr1:155734800-155756600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:155737200-155772200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:155743000-155763400	Weak transcription	HMEC	breast
24	chr1:155743200-155773400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:155743600-155754600	Weak transcription	Colonic Mucosa	Colon
26	chr1:155743600-155762200	Weak transcription	NHDF-Ad	bronchial
27	chr1:155744200-155757600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:155744600-155754600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:155745200-155761000	Strong transcription	Fetal Intestine Small	intestine
30	chr1:155745600-155753000	Weak transcription	Brain Angular Gyrus	brain
31	chr1:155746200-155754600	Weak transcription	Small Intestine	intestine
32	chr1:155746400-155774000	Weak transcription	Pancreas	Pancrea
33	chr1:155746400-155791400	Weak transcription	Stomach Mucosa	stomach
34	chr1:155746600-155763400	Weak transcription	Spleen	Spleen
35	chr1:155746800-155753000	Weak transcription	HSMMtube	muscle
36	chr1:155746800-155756200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:155746800-155758600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr1:155747000-155753000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr1:155747000-155763000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr1:155747000-155764200	Weak transcription	Brain Substantia Nigra	brain
41	chr1:155747200-155754000	Weak transcription	GM12878-XiMat	blood
42	chr1:155747200-155763400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:155747400-155754600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:155747400-155763200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:155747600-155753200	Weak transcription	Brain Anterior Caudate	brain
46	chr1:155747600-155753400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:155747600-155753400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr1:155747600-155753600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr1:155747600-155753600	Weak transcription	HepG2	liver
50	chr1:155747600-155754600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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