Variant report

Variant	rs17071714
Chromosome Location	chr13:49007639-49007640
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs17069281	1.00[EUR][1000 genomes]
rs17071548	1.00[EUR][1000 genomes]
rs17071560	1.00[EUR][1000 genomes]
rs17071673	1.00[EUR][1000 genomes]
rs17071675	1.00[EUR][1000 genomes]
rs17071716	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3092865	1.00[EUR][1000 genomes]
rs3092883	1.00[EUR][1000 genomes]
rs3092886	1.00[MEX][hapmap]
rs3901587	1.00[EUR][1000 genomes]
rs41425345	1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4151460	1.00[EUR][1000 genomes]
rs4151468	1.00[EUR][1000 genomes]
rs4151487	1.00[EUR][1000 genomes]
rs4151514	1.00[EUR][1000 genomes]
rs4151516	1.00[EUR][1000 genomes]
rs4151527	1.00[EUR][1000 genomes]
rs4151563	1.00[EUR][1000 genomes]
rs4151587	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4151621	1.00[EUR][1000 genomes]
rs4151628	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4303378	1.00[EUR][1000 genomes]
rs56945534	1.00[EUR][1000 genomes]
rs59355608	1.00[EUR][1000 genomes]
rs59550884	1.00[EUR][1000 genomes]
rs6561463	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6561467	1.00[EUR][1000 genomes]
rs7316991	0.87[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[EUR][1000 genomes]
rs7321847	1.00[EUR][1000 genomes]
rs7323517	1.00[EUR][1000 genomes]
rs7324752	0.87[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7325924	1.00[EUR][1000 genomes]
rs7329733	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7333561	1.00[EUR][1000 genomes]
rs7337056	1.00[EUR][1000 genomes]
rs73487075	1.00[EUR][1000 genomes]
rs73487091	1.00[EUR][1000 genomes]
rs73490880	1.00[EUR][1000 genomes]
rs73493099	1.00[EUR][1000 genomes]
rs74074170	1.00[EUR][1000 genomes]
rs74074184	1.00[EUR][1000 genomes]
rs7981750	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7984036	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7984309	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs7997794	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9331954	1.00[EUR][1000 genomes]
rs9332019	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9332048	1.00[EUR][1000 genomes]
rs9332086	1.00[EUR][1000 genomes]
rs9332251	1.00[EUR][1000 genomes]
rs9332256	1.00[EUR][1000 genomes]
rs9332287	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9332296	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9332298	1.00[EUR][1000 genomes]
rs943282	1.00[EUR][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	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48987600-49010400	Weak transcription	Psoas Muscle	Psoas
2	chr13:48990800-49011600	Weak transcription	Left Ventricle	heart
3	chr13:48990800-49030800	Weak transcription	Ovary	ovary
4	chr13:48991400-49010200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:48991400-49013200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr13:48991400-49018600	Weak transcription	Thymus	Thymus
7	chr13:48991400-49019200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:48991400-49030600	Weak transcription	Spleen	Spleen
9	chr13:48991600-49010800	Weak transcription	Fetal Stomach	stomach
10	chr13:48991800-49010000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr13:48991800-49018800	Weak transcription	Fetal Thymus	thymus
12	chr13:48994800-49018000	Weak transcription	Primary B cells from cord blood	blood
13	chr13:48996600-49010400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr13:48997800-49011200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr13:48999000-49024400	Weak transcription	Fetal Muscle Leg	muscle
16	chr13:49001200-49009600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr13:49001200-49009800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr13:49001400-49010600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:49001400-49022400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:49001400-49024600	Weak transcription	Fetal Intestine Small	intestine
21	chr13:49003000-49012600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr13:49003600-49008800	Weak transcription	Lung	lung
23	chr13:49003600-49011600	Weak transcription	Pancreas	Pancrea
24	chr13:49003600-49023200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr13:49005400-49007800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr13:49005400-49007800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr13:49006000-49018000	Weak transcription	Dnd41	blood
28	chr13:49006400-49008200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr13:49006400-49018800	Weak transcription	GM12878-XiMat	blood
30	chr13:49006600-49007800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr13:49006600-49010400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr13:49006600-49010800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr13:49006600-49011400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr13:49006600-49011600	Weak transcription	Brain Anterior Caudate	brain
35	chr13:49006800-49008000	Enhancers	HepG2	liver
36	chr13:49006800-49008400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr13:49006800-49008600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr13:49006800-49008600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr13:49006800-49008600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr13:49006800-49008600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr13:49006800-49008800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr13:49006800-49010200	Weak transcription	Stomach Mucosa	stomach
43	chr13:49006800-49010400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr13:49006800-49010400	Weak transcription	Brain Substantia Nigra	brain
45	chr13:49006800-49010600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr13:49006800-49010600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr13:49006800-49010600	Weak transcription	HMEC	breast
48	chr13:49006800-49010800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr13:49006800-49010800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr13:49006800-49010800	Weak transcription	NHDF-Ad	bronchial

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