Variant report

Variant	rs71371202
Chromosome Location	chr17:17227464-17227465
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17207386..17210121-chr17:17225925..17228746,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11870836	0.87[EUR][1000 genomes]
rs12941075	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12948357	1.00[ASN][1000 genomes]
rs16942153	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17726673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17726703	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34025151	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35554631	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6502575	1.00[ASN][1000 genomes]
rs6502579	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217503	0.87[EUR][1000 genomes]
rs73300362	1.00[ASN][1000 genomes]
rs8082383	1.00[ASN][1000 genomes]
rs9891799	1.00[ASN][1000 genomes]
rs9913682	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1061186	chr17:17200427-17314406	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17207400-17235400	Weak transcription	Lung	lung
2	chr17:17207600-17246400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr17:17207800-17228000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr17:17207800-17228000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr17:17207800-17228400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr17:17207800-17229600	Weak transcription	Adipose Nuclei	Adipose
7	chr17:17207800-17243400	Weak transcription	Colon Smooth Muscle	Colon
8	chr17:17208200-17228200	Weak transcription	Brain Hippocampus Middle	brain
9	chr17:17208600-17255400	Weak transcription	Brain Substantia Nigra	brain
10	chr17:17208800-17236000	Weak transcription	Right Ventricle	heart
11	chr17:17209000-17227600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr17:17210600-17233400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr17:17212400-17229000	Weak transcription	Fetal Brain Male	brain
14	chr17:17213000-17248000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr17:17215400-17229000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:17215600-17228000	Weak transcription	Ovary	ovary
17	chr17:17215600-17231400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:17215600-17252800	Weak transcription	Fetal Lung	lung
19	chr17:17215800-17228000	Weak transcription	Dnd41	blood
20	chr17:17216600-17240800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr17:17217000-17229600	Weak transcription	Gastric	stomach
22	chr17:17217000-17231800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr17:17217200-17253800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr17:17218400-17228000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr17:17218600-17239800	Weak transcription	Fetal Thymus	thymus
26	chr17:17219000-17231400	Weak transcription	K562	blood
27	chr17:17219000-17255400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr17:17223600-17230200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr17:17224600-17248200	Weak transcription	Pancreas	Pancrea
30	chr17:17225400-17228200	Strong transcription	Fetal Muscle Leg	muscle
31	chr17:17225400-17229800	Strong transcription	Thymus	Thymus
32	chr17:17225400-17230000	Strong transcription	Brain Germinal Matrix	brain
33	chr17:17225400-17230200	Strong transcription	Brain Anterior Caudate	brain
34	chr17:17225600-17230200	Strong transcription	Fetal Stomach	stomach
35	chr17:17225800-17228800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr17:17225800-17230000	Strong transcription	Fetal Brain Female	brain
37	chr17:17226000-17229400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr17:17226000-17230000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr17:17226000-17230200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr17:17226000-17230200	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr17:17226000-17235600	Weak transcription	Spleen	Spleen
42	chr17:17226200-17232000	Strong transcription	Primary hematopoietic stem cells	blood
43	chr17:17226400-17229400	Strong transcription	Fetal Intestine Small	intestine
44	chr17:17226600-17228200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr17:17226600-17228600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr17:17226600-17251200	Weak transcription	Primary T cells from cord blood	blood
47	chr17:17226800-17246800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr17:17227200-17227600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr17:17227200-17228000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr17:17227200-17229000	Weak transcription	Brain Angular Gyrus	brain

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