Variant report

Variant	rs71381469
Chromosome Location	chr17:34039146-34039147
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:34037578..34041296-chr17:34042610..34046006,5	K562	blood:
2	chr17:34024050..34027708-chr17:34038047..34041626,3	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11650225	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11650621	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11651380	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11652390	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11653354	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654542	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11656872	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11657558	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12936539	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12936693	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12939138	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12939481	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12940422	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12940584	1.00[ASN][1000 genomes]
rs12943224	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12945102	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12945980	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12947274	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12949877	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12951703	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17606150	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17608253	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17638076	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17669281	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17670584	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17670614	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17676508	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34063751	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34296197	0.83[AFR][1000 genomes]
rs34874930	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34937989	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3506	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35396673	0.83[AFR][1000 genomes]
rs35515868	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35672532	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35774966	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4531775	1.00[ASN][1000 genomes]
rs71381460	1.00[ASN][1000 genomes]
rs71381461	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71381463	0.90[EUR][1000 genomes]
rs71381465	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71381467	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908080	chr17:34027964-34054044	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr17:33931000-34040200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:33968000-34055800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr17:33999400-34043400	Weak transcription	Fetal Brain Male	brain
4	chr17:34006600-34039800	Weak transcription	Small Intestine	intestine
5	chr17:34017800-34040400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:34018800-34050600	Weak transcription	Esophagus	oesophagus
7	chr17:34019000-34044000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr17:34022200-34042400	Weak transcription	Aorta	Aorta
9	chr17:34023200-34043800	Weak transcription	Spleen	Spleen
10	chr17:34023200-34044000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr17:34023200-34051600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr17:34023400-34044200	Weak transcription	Brain Germinal Matrix	brain
13	chr17:34024200-34056200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr17:34026600-34039600	Weak transcription	HSMMtube	muscle
15	chr17:34026600-34050200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr17:34032600-34055800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr17:34034600-34041000	Strong transcription	Dnd41	blood
18	chr17:34034800-34053400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr17:34034800-34055600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr17:34035000-34039600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:34035400-34039200	Strong transcription	HSMM	muscle
22	chr17:34035400-34056200	Strong transcription	A549	lung
23	chr17:34035800-34039200	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr17:34035800-34039600	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr17:34035800-34040000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr17:34035800-34053000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr17:34036000-34039200	Strong transcription	Fetal Intestine Large	intestine
28	chr17:34036000-34039400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr17:34036000-34039400	Strong transcription	Fetal Thymus	thymus
30	chr17:34036000-34039600	Strong transcription	Fetal Muscle Leg	muscle
31	chr17:34036000-34039800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr17:34036000-34040000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr17:34036000-34040000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr17:34036000-34040000	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr17:34036000-34040800	Strong transcription	K562	blood
36	chr17:34036000-34041800	Strong transcription	Fetal Stomach	stomach
37	chr17:34036000-34045800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr17:34036000-34047400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr17:34036000-34049000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr17:34036000-34055600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr17:34036200-34039200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr17:34036200-34039600	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr17:34036200-34041600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr17:34036200-34044000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr17:34036400-34039200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr17:34036400-34039800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr17:34036400-34039800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr17:34036400-34039800	Strong transcription	Fetal Lung	lung
49	chr17:34036400-34040000	Weak transcription	Psoas Muscle	Psoas
50	chr17:34036400-34040000	Weak transcription	Right Atrium	heart

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