Variant report

Variant	rs9568154
Chromosome Location	chr13:49709577-49709578
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs12872974	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1359066	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1407827	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1407829	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1928109	0.86[CHB][hapmap]
rs1937180	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs1937181	0.86[CHB][hapmap]
rs1983805	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2021622	0.88[ASN][1000 genomes]
rs2026029	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2146748	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2149498	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2181537	0.90[ASN][1000 genomes]
rs2181538	0.90[ASN][1000 genomes]
rs2181539	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2183095	0.90[CHB][hapmap]
rs2224742	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2407266	0.90[CHB][hapmap]
rs2897633	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2987528	0.90[CHB][hapmap]
rs2987532	0.90[CHB][hapmap]
rs2994377	0.90[CHB][hapmap]
rs2994378	0.90[CHB][hapmap]
rs2994379	0.90[CHB][hapmap]
rs2994380	0.90[CHB][hapmap]
rs3012116	0.90[CHB][hapmap]
rs3012117	0.90[CHB][hapmap]
rs3012121	0.90[CHB][hapmap]
rs3012127	0.86[CHB][hapmap]
rs3012133	0.90[CHB][hapmap]
rs3012136	0.90[CHB][hapmap]
rs34360275	0.86[ASN][1000 genomes]
rs35018425	0.86[ASN][1000 genomes]
rs4142065	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4245350	0.83[ASN][1000 genomes]
rs4258502	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs4530025	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4942796	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4942799	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4942800	0.95[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs6561493	0.90[ASN][1000 genomes]
rs6561496	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6561497	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6561504	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7139819	0.83[ASN][1000 genomes]
rs716722	0.85[ASN][1000 genomes]
rs720627	0.90[CHB][hapmap]
rs728075	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7317908	0.86[ASN][1000 genomes]
rs7318871	0.90[ASN][1000 genomes]
rs7329291	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7333097	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7333285	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7338529	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7983885	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7986624	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7987258	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs7988168	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7989175	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7990573	0.86[ASN][1000 genomes]
rs7994368	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs7994845	0.86[ASN][1000 genomes]
rs7994910	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AFR][1000 genomes]
rs7995616	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7997118	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7998359	0.85[CHB][hapmap]
rs7999513	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs8248	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs9316426	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9316428	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9316429	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9526518	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs9526520	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9526526	0.81[ASN][1000 genomes]
rs9535126	0.86[CHB][hapmap]
rs9535136	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9535140	0.87[ASN][1000 genomes]
rs9535141	0.86[ASN][1000 genomes]
rs9535145	0.90[CHB][hapmap]
rs9535146	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs9535147	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs9535149	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs9535154	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs9535155	0.90[CHB][hapmap]
rs9535156	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9535166	0.90[CHB][hapmap]
rs9535167	0.90[CHB][hapmap]
rs9562866	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9562870	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9568143	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs9568150	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs9568151	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs9596064	0.86[ASN][1000 genomes]
rs972297	0.81[JPT][hapmap]

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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS 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	42 gene(s)	inside rSNPs	diseases
2	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv1796840	chr13:49671215-49760666	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1052168	chr13:49691378-49743696	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49687600-49724200	Weak transcription	Esophagus	oesophagus
2	chr13:49687600-49789000	Weak transcription	Stomach Mucosa	stomach
3	chr13:49689000-49711200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr13:49693600-49711000	Weak transcription	Pancreas	Pancrea
5	chr13:49693600-49737200	Weak transcription	Spleen	Spleen
6	chr13:49699800-49714800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr13:49703000-49712200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:49704400-49720000	Strong transcription	Dnd41	blood
9	chr13:49705000-49709600	Strong transcription	Primary B cells from cord blood	blood
10	chr13:49705000-49720400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:49705200-49711000	Strong transcription	Placenta	Placenta
12	chr13:49705200-49711800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr13:49705200-49712000	Strong transcription	Primary hematopoietic stem cells	blood
14	chr13:49705200-49712200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr13:49705200-49712800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr13:49705200-49713400	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr13:49705200-49714400	Strong transcription	NHDF-Ad	bronchial
18	chr13:49705200-49714600	Strong transcription	HSMM	muscle
19	chr13:49705200-49714800	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr13:49705200-49715000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:49705200-49715000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr13:49705200-49715600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr13:49705200-49715600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr13:49705200-49716000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr13:49705200-49717000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:49705200-49717000	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr13:49705200-49717200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr13:49705200-49718200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr13:49705200-49718200	Strong transcription	Fetal Thymus	thymus
30	chr13:49705200-49720400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr13:49705200-49720600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:49705200-49720600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr13:49705200-49720600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr13:49705200-49721000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr13:49705200-49722400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr13:49705200-49723200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr13:49705400-49712400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr13:49705400-49714600	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr13:49705400-49718000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr13:49705400-49726600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr13:49705600-49711000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr13:49705800-49710600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr13:49705800-49714800	Weak transcription	Aorta	Aorta
44	chr13:49705800-49737200	Weak transcription	Right Ventricle	heart
45	chr13:49706000-49711000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr13:49706000-49717400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr13:49706000-49737400	Weak transcription	Gastric	stomach
48	chr13:49706000-49748200	Weak transcription	K562	blood
49	chr13:49706200-49711400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr13:49706200-49720800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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