Variant report

Variant	rs17608253
Chromosome Location	chr17:34026470-34026471
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:34024050..34027708-chr17:34038047..34041626,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11650225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11650621	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11651380	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11652390	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11653354	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654542	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11655098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs11656872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11657558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12604067	0.82[CEU][hapmap]
rs12936539	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12936693	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12939138	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs12939481	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12940422	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12940584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs12941376	1.00[YRI][hapmap]
rs12943224	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12945102	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12945419	1.00[YRI][hapmap]
rs12945980	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12947274	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12949877	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12950534	0.82[AFR][1000 genomes]
rs12951703	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1350010	1.00[CHB][hapmap]
rs16971217	0.82[CEU][hapmap]
rs17606150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17638076	1.00[ASN][1000 genomes]
rs17669281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17670584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17670614	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17676508	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34063751	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34296197	0.91[AFR][1000 genomes]
rs34528380	0.82[AFR][1000 genomes]
rs34874930	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34937989	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35396673	0.91[AFR][1000 genomes]
rs35419374	0.82[AFR][1000 genomes]
rs35515868	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35672532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35774966	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35872249	0.82[AFR][1000 genomes]
rs4531775	1.00[ASN][1000 genomes]
rs71381460	1.00[ASN][1000 genomes]
rs71381461	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71381463	0.93[EUR][1000 genomes]
rs71381465	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71381467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71381469	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 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	chr17:33992800-34028200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:33999400-34043400	Weak transcription	Fetal Brain Male	brain
5	chr17:34002000-34032200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr17:34002000-34036800	Weak transcription	Colonic Mucosa	Colon
7	chr17:34005400-34028400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr17:34005800-34026600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr17:34006600-34032800	Weak transcription	Stomach Mucosa	stomach
10	chr17:34006600-34039800	Weak transcription	Small Intestine	intestine
11	chr17:34011000-34026600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr17:34011800-34036200	Weak transcription	Hela-S3	cervix
13	chr17:34013600-34036000	Weak transcription	NHLF	lung
14	chr17:34016000-34036600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr17:34017200-34034600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr17:34017800-34040400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:34018800-34034600	Weak transcription	Pancreas	Pancrea
18	chr17:34018800-34036000	Weak transcription	Gastric	stomach
19	chr17:34018800-34050600	Weak transcription	Esophagus	oesophagus
20	chr17:34019000-34044000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr17:34021000-34036800	Weak transcription	NHEK	skin
22	chr17:34021200-34037000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr17:34022000-34036000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:34022000-34036200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr17:34022200-34036000	Weak transcription	Ovary	ovary
26	chr17:34022200-34042400	Weak transcription	Aorta	Aorta
27	chr17:34022400-34036000	Weak transcription	Left Ventricle	heart
28	chr17:34022600-34035400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr17:34022600-34036000	Weak transcription	Psoas Muscle	Psoas
30	chr17:34022800-34036000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr17:34022800-34036200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr17:34022800-34036400	Weak transcription	Colon Smooth Muscle	Colon
33	chr17:34023000-34034800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr17:34023000-34034800	Weak transcription	Brain Angular Gyrus	brain
35	chr17:34023000-34035200	Weak transcription	GM12878-XiMat	blood
36	chr17:34023000-34036800	Weak transcription	NHDF-Ad	bronchial
37	chr17:34023200-34028600	Weak transcription	Right Atrium	heart
38	chr17:34023200-34031200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr17:34023200-34034600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr17:34023200-34034800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr17:34023200-34034800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr17:34023200-34035000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr17:34023200-34035800	Weak transcription	Brain Anterior Caudate	brain
44	chr17:34023200-34036000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr17:34023200-34036000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr17:34023200-34036000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr17:34023200-34036800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr17:34023200-34037000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr17:34023200-34037400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr17:34023200-34043800	Weak transcription	Spleen	Spleen

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