Variant report

Variant	rs7981492
Chromosome Location	chr13:48559164-48559165
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48541315..48543966-chr13:48557894..48560541,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10397	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs11617143	1.00[CHB][hapmap]
rs11617714	0.90[ASN][1000 genomes]
rs11617894	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11618304	0.90[ASN][1000 genomes]
rs12561235	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13243	0.86[EUR][1000 genomes]
rs17071169	0.90[ASN][1000 genomes]
rs2025703	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2094196	1.00[CHB][hapmap]
rs41284209	0.90[ASN][1000 genomes]
rs4477588	0.82[EUR][1000 genomes]
rs45465203	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56097393	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56385117	0.86[EUR][1000 genomes]
rs7324919	0.86[EUR][1000 genomes]
rs7326861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7331746	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs7335424	0.83[YRI][hapmap]
rs7335662	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7337521	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs7339238	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs753372	1.00[CHB][hapmap]
rs7981902	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]
rs9562784	0.86[EUR][1000 genomes]
rs9562785	0.93[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9562786	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9562790	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9562791	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562794	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562795	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562797	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9562798	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9567927	1.00[CHB][hapmap]
rs9567956	0.85[EUR][1000 genomes]
rs9567957	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9567966	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567967	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567970	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567971	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567974	0.90[ASN][1000 genomes]
rs9567975	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9567977	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9567978	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9567981	0.90[ASN][1000 genomes]
rs9567982	0.86[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9567983	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9567985	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9567990	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs9567992	1.00[CHB][hapmap]
rs9634678	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48514400-48574000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr13:48532200-48565200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr13:48532400-48559400	Weak transcription	Gastric	stomach
4	chr13:48532400-48565200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:48534000-48560800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr13:48534200-48573200	Weak transcription	Brain Angular Gyrus	brain
7	chr13:48534400-48574400	Weak transcription	Small Intestine	intestine
8	chr13:48535000-48564800	Weak transcription	NHLF	lung
9	chr13:48537200-48574200	Weak transcription	Colonic Mucosa	Colon
10	chr13:48537400-48560200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr13:48537400-48574000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr13:48537400-48574400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:48538000-48567200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr13:48538400-48574000	Weak transcription	Hela-S3	cervix
15	chr13:48538600-48559800	Weak transcription	HUVEC	blood vessel
16	chr13:48538800-48564800	Weak transcription	Brain Germinal Matrix	brain
17	chr13:48539600-48571200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr13:48540000-48574200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr13:48540800-48565000	Weak transcription	NH-A	brain
20	chr13:48542400-48564800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr13:48542400-48565200	Weak transcription	Psoas Muscle	Psoas
22	chr13:48542400-48567000	Weak transcription	Esophagus	oesophagus
23	chr13:48543000-48574400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr13:48543400-48560600	Weak transcription	HepG2	liver
25	chr13:48546400-48559400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr13:48546400-48564600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr13:48546400-48565200	Weak transcription	Pancreas	Pancrea
28	chr13:48546600-48559200	Weak transcription	Brain Substantia Nigra	brain
29	chr13:48546600-48574400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr13:48546600-48574800	Weak transcription	Spleen	Spleen
31	chr13:48546800-48559200	Weak transcription	Colon Smooth Muscle	Colon
32	chr13:48546800-48560600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr13:48546800-48564200	Weak transcription	Lung	lung
34	chr13:48546800-48564600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr13:48546800-48567000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr13:48546800-48567200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr13:48546800-48571600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr13:48547000-48559200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr13:48547400-48559200	Weak transcription	Brain Anterior Caudate	brain
40	chr13:48547800-48559200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr13:48548000-48559600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr13:48548000-48574200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr13:48548800-48559200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr13:48548800-48559200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr13:48548800-48559200	Weak transcription	Osteobl	bone
46	chr13:48548800-48559400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr13:48548800-48559400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr13:48548800-48559400	Weak transcription	Thymus	Thymus
49	chr13:48548800-48560200	Weak transcription	Fetal Intestine Small	intestine
50	chr13:48548800-48574400	Weak transcription	Placenta Amnion	Placenta Amnion

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