Variant report

Variant	rs7338529
Chromosome Location	chr13:49701351-49701352
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs12872974	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1359066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1407827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1407829	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1535922	0.95[CEU][hapmap];0.82[CHB][hapmap];0.83[EUR][1000 genomes]
rs1928109	0.83[CEU][hapmap];0.87[CHB][hapmap]
rs1928110	0.81[EUR][1000 genomes]
rs1937180	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs1937181	0.96[CEU][hapmap];0.87[CHB][hapmap];0.89[EUR][1000 genomes]
rs1983805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2021622	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2026029	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs2146748	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2149498	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2181537	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2181538	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2181539	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2183095	0.86[CEU][hapmap];0.91[CHB][hapmap]
rs2224742	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2407266	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs2897633	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes]
rs2897689	0.90[CEU][hapmap]
rs2987528	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs2987532	0.91[CEU][hapmap];0.91[CHB][hapmap]
rs2994377	0.95[CEU][hapmap];0.91[CHB][hapmap];0.89[EUR][1000 genomes]
rs2994378	0.95[CEU][hapmap];0.91[CHB][hapmap];0.89[EUR][1000 genomes]
rs2994379	0.95[CEU][hapmap];0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs2994380	0.95[CEU][hapmap];0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs2994381	0.82[EUR][1000 genomes]
rs3012116	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs3012117	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs3012121	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs3012127	0.96[CEU][hapmap];0.87[CHB][hapmap];0.82[EUR][1000 genomes]
rs3012133	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs3012136	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs34360275	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35018425	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4142065	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4245350	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4258502	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs4530025	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4942796	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4942799	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs4942800	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6561493	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6561496	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6561497	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6561504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67235936	0.82[EUR][1000 genomes]
rs7139746	0.81[EUR][1000 genomes]
rs7139819	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7139854	0.81[EUR][1000 genomes]
rs716722	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs720627	0.91[CEU][hapmap];0.91[CHB][hapmap]
rs728075	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7317908	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7318871	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7328000	0.84[EUR][1000 genomes]
rs7329291	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7331917	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7333097	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs7333285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7983885	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs7986624	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7987258	0.91[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap]
rs7988168	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs7989175	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs7990573	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7994368	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs7994845	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7994910	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes]
rs7995616	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes]
rs7996151	0.83[EUR][1000 genomes]
rs7997118	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7998359	0.95[CEU][hapmap];0.86[CHB][hapmap]
rs7999513	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs8248	0.84[CHB][hapmap];0.81[JPT][hapmap];0.81[YRI][hapmap]
rs9316426	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9316428	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes]
rs9316429	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9526518	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs9526520	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs9526525	0.86[EUR][1000 genomes]
rs9526526	0.81[ASN][1000 genomes]
rs9535126	0.96[CEU][hapmap];0.87[CHB][hapmap]
rs9535136	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs9535140	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9535141	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9535145	0.95[CEU][hapmap];0.91[CHB][hapmap];0.90[EUR][1000 genomes]
rs9535146	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9535147	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9535149	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9535154	0.95[CEU][hapmap];0.91[CHB][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9535155	0.95[CEU][hapmap];0.91[CHB][hapmap];0.86[EUR][1000 genomes]
rs9535156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9535166	0.95[CEU][hapmap];0.91[CHB][hapmap];0.83[EUR][1000 genomes]
rs9535167	0.95[CEU][hapmap];0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs9562866	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9562870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568143	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs9568150	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9568151	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9568154	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9591235	0.85[EUR][1000 genomes]
rs9596064	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs972297	0.95[CEU][hapmap];0.80[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49685600-49705400	Weak transcription	K562	blood
2	chr13:49687600-49705800	Weak transcription	Small Intestine	intestine
3	chr13:49687600-49706200	Weak transcription	Fetal Heart	heart
4	chr13:49687600-49724200	Weak transcription	Esophagus	oesophagus
5	chr13:49687600-49789000	Weak transcription	Stomach Mucosa	stomach
6	chr13:49688000-49705000	Weak transcription	Right Ventricle	heart
7	chr13:49688200-49702200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr13:49689000-49711200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr13:49690200-49705200	Weak transcription	Brain Anterior Caudate	brain
10	chr13:49691400-49705400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr13:49691600-49702200	Weak transcription	Psoas Muscle	Psoas
12	chr13:49691800-49705200	Weak transcription	HMEC	breast
13	chr13:49692000-49705200	Weak transcription	NHLF	lung
14	chr13:49692800-49705200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr13:49693400-49705200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr13:49693400-49705200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr13:49693400-49705200	Weak transcription	Aorta	Aorta
18	chr13:49693400-49706600	Weak transcription	A549	lung
19	chr13:49693600-49701400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr13:49693600-49704600	Weak transcription	Hela-S3	cervix
21	chr13:49693600-49705000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:49693600-49705000	Weak transcription	Fetal Intestine Small	intestine
23	chr13:49693600-49705000	Weak transcription	Fetal Stomach	stomach
24	chr13:49693600-49705000	Weak transcription	Gastric	stomach
25	chr13:49693600-49705200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr13:49693600-49705200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr13:49693600-49705200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr13:49693600-49705200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr13:49693600-49705200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr13:49693600-49705200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr13:49693600-49705200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr13:49693600-49705200	Weak transcription	Colonic Mucosa	Colon
33	chr13:49693600-49705200	Weak transcription	Lung	lung
34	chr13:49693600-49705200	Weak transcription	Ovary	ovary
35	chr13:49693600-49705200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr13:49693600-49705200	Weak transcription	Thymus	Thymus
37	chr13:49693600-49705200	Weak transcription	GM12878-XiMat	blood
38	chr13:49693600-49705400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:49693600-49705400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr13:49693600-49705400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr13:49693600-49705600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr13:49693600-49711000	Weak transcription	Pancreas	Pancrea
43	chr13:49693600-49737200	Weak transcription	Spleen	Spleen
44	chr13:49693800-49702400	Weak transcription	Fetal Intestine Large	intestine
45	chr13:49693800-49703000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:49693800-49705200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr13:49693800-49705200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr13:49693800-49705200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr13:49693800-49705200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr13:49693800-49705200	Weak transcription	HSMM	muscle

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