Variant report

Variant	rs17071673
Chromosome Location	chr13:48974543-48974544
allele	A/T
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:52)

rs_ID	r²[population]
rs17069281	1.00[EUR][1000 genomes]
rs17071548	1.00[EUR][1000 genomes]
rs17071560	1.00[EUR][1000 genomes]
rs17071675	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17071714	1.00[EUR][1000 genomes]
rs17071716	1.00[EUR][1000 genomes]
rs3092865	1.00[EUR][1000 genomes]
rs3092883	1.00[EUR][1000 genomes]
rs3901587	1.00[EUR][1000 genomes]
rs41425345	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	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4151621	1.00[EUR][1000 genomes]
rs4151628	1.00[EUR][1000 genomes]
rs4303378	1.00[EUR][1000 genomes]
rs56945534	1.00[EUR][1000 genomes]
rs59550884	1.00[EUR][1000 genomes]
rs6561463	1.00[EUR][1000 genomes]
rs6561467	1.00[EUR][1000 genomes]
rs7316991	1.00[EUR][1000 genomes]
rs7321847	1.00[EUR][1000 genomes]
rs7323517	1.00[EUR][1000 genomes]
rs7324752	1.00[EUR][1000 genomes]
rs7325924	1.00[EUR][1000 genomes]
rs7329733	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]
rs74074170	1.00[EUR][1000 genomes]
rs74074184	1.00[EUR][1000 genomes]
rs7981750	1.00[EUR][1000 genomes]
rs7984036	1.00[EUR][1000 genomes]
rs7984309	1.00[EUR][1000 genomes]
rs7997794	0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9331954	1.00[EUR][1000 genomes]
rs9332019	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[EUR][1000 genomes]
rs9332296	1.00[EUR][1000 genomes]
rs9332298	1.00[EUR][1000 genomes]
rs943282	1.00[EUR][1000 genomes]

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	esv1803998	chr13:48966078-48986320	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1050786	chr13:48971510-48987032	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1053432	chr13:48971510-48992810	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1043486	chr13:48971510-48996995	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48916800-48985400	Weak transcription	Colonic Mucosa	Colon
2	chr13:48925200-48974800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr13:48925400-48976400	Weak transcription	Ovary	ovary
4	chr13:48934600-48984200	Weak transcription	Right Ventricle	heart
5	chr13:48936000-48974600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr13:48943600-48984200	Weak transcription	Brain Angular Gyrus	brain
7	chr13:48944600-48983400	Weak transcription	Psoas Muscle	Psoas
8	chr13:48954800-48975000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr13:48956200-48976600	Weak transcription	Liver	Liver
10	chr13:48966400-48986000	Weak transcription	Lung	lung
11	chr13:48966800-48984200	Weak transcription	Placenta	Placenta
12	chr13:48967600-48974600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr13:48968200-48976400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr13:48968400-48976600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr13:48968800-48974800	Weak transcription	Primary T cells from cord blood	blood
16	chr13:48968800-48976400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr13:48968800-48977800	Weak transcription	Spleen	Spleen
18	chr13:48968800-48984200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr13:48969000-48984200	Weak transcription	Fetal Intestine Large	intestine
20	chr13:48969000-48984400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr13:48969200-48975000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr13:48969200-48975000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr13:48969200-48976400	Weak transcription	Fetal Thymus	thymus
24	chr13:48969200-48976600	Weak transcription	Left Ventricle	heart
25	chr13:48969200-48976600	Weak transcription	Thymus	Thymus
26	chr13:48969200-48978000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr13:48969200-48978000	Weak transcription	Esophagus	oesophagus
28	chr13:48969200-48984200	Weak transcription	Fetal Stomach	stomach
29	chr13:48969200-48984400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr13:48970000-48974800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr13:48970200-48977600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr13:48970400-48976400	Weak transcription	Fetal Muscle Leg	muscle
33	chr13:48970600-48974600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr13:48970600-48984200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:48971200-48976800	Enhancers	HepG2	liver
36	chr13:48971600-48977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr13:48971800-48975400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr13:48972000-48974800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr13:48972000-48975000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr13:48972000-48976000	Enhancers	NHLF	lung
41	chr13:48972000-48976200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr13:48972000-48976400	Enhancers	NHDF-Ad	bronchial
43	chr13:48972000-48977200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr13:48972000-48977400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr13:48972000-48977800	Enhancers	HMEC	breast
46	chr13:48972000-48978000	Enhancers	Osteobl	bone
47	chr13:48972000-48978800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr13:48972000-48980000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr13:48972200-48975000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr13:48972200-48975000	Enhancers	NHEK	skin

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