Variant report

Variant	rs11803678
Chromosome Location	chr1:155725531-155725532
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1094462	1.00[CEU][hapmap];1.00[TSI][hapmap];0.82[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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16837037	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16837063	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs171167	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17370773	1.00[CEU][hapmap]
rs1749415	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1749417	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1749421	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1765284	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1962247	0.95[EUR][1000 genomes]
rs2363012	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2477541	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2686255	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4612618	1.00[EUR][1000 genomes]
rs4933	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs4971065	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs4971086	0.82[EUR][1000 genomes]
rs4971087	0.82[EUR][1000 genomes]
rs4971106	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs543854	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs548809	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs552778	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56758819	1.00[EUR][1000 genomes]
rs59706606	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59791187	1.00[EUR][1000 genomes]
rs598176	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs61258690	0.85[EUR][1000 genomes]
rs621181	0.85[CEU][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs682020	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs708612	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73001021	1.00[EUR][1000 genomes]
rs7525057	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs7530726	1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7535158	0.90[EUR][1000 genomes]
rs822016	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs822018	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs822019	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs822020	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs822022	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[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	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs822488	0.85[AMR][1000 genomes]
rs822495	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs822497	1.00[CEU][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs822499	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs822500	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs822523	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9426929	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9427223	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
5	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
6	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
7	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155715400-155725600	Weak transcription	Fetal Brain Male	brain
2	chr1:155715400-155726200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:155715400-155730000	Weak transcription	Stomach Mucosa	stomach
4	chr1:155715400-155739200	Weak transcription	Fetal Heart	heart
5	chr1:155715400-155789200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:155715600-155726800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:155715600-155764600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:155716000-155793400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:155716200-155726800	Weak transcription	A549	lung
10	chr1:155716600-155781800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:155717200-155725600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:155717200-155761000	Strong transcription	Fetal Stomach	stomach
13	chr1:155717400-155731000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:155717400-155733400	Strong transcription	Brain Anterior Caudate	brain
15	chr1:155717400-155795800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:155717600-155733800	Strong transcription	Spleen	Spleen
17	chr1:155717600-155750200	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr1:155718000-155729400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:155718200-155729400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:155718800-155726800	Weak transcription	Psoas Muscle	Psoas
21	chr1:155720000-155732000	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:155720200-155732800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr1:155720200-155732800	Strong transcription	Osteobl	bone
24	chr1:155720200-155733000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr1:155720200-155733800	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:155720200-155745400	Strong transcription	Fetal Muscle Leg	muscle
27	chr1:155720200-155748600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:155720200-155748800	Strong transcription	Duodenum Mucosa	Duodenum
29	chr1:155720200-155748800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr1:155720200-155749000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:155720200-155749600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:155720200-155750200	Strong transcription	Primary T cells from cord blood	blood
33	chr1:155720200-155750600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:155720200-155755800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:155720200-155756200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:155720200-155756600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:155720200-155798200	Strong transcription	Fetal Thymus	thymus
38	chr1:155720200-155803600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:155720400-155725600	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr1:155720400-155727400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:155720400-155730400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:155720400-155731000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:155720400-155732600	Strong transcription	HSMM	muscle
44	chr1:155720400-155732800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:155720400-155732800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:155720400-155733000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:155720400-155733000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:155720400-155733800	Strong transcription	Left Ventricle	heart
49	chr1:155720400-155743200	Strong transcription	Stomach Smooth Muscle	stomach
50	chr1:155720400-155743200	Strong transcription	Thymus	Thymus

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