Variant report

Variant	rs11653357
Chromosome Location	chr17:33923607-33923608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:33922858..33924678-chr17:34135851..34137902,2	K562	blood:
2	chr17:33921434..33923649-chr17:33954336..33955867,2	K562	blood:

Variant related genes	Relation type
ENSG00000172660	Chromatin interaction
ENSG00000267578	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1037590	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1037592	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10512472	0.83[AMR][1000 genomes]
rs11655803	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11656138	0.84[ASN][1000 genomes]
rs11868206	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12604067	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12947592	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12948669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1671656	0.83[ASN][1000 genomes]
rs16971217	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16971227	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1968578	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs225243	0.83[ASN][1000 genomes]
rs225247	0.83[ASN][1000 genomes]
rs225251	0.83[ASN][1000 genomes]
rs225254	0.83[ASN][1000 genomes]
rs225259	0.80[ASN][1000 genomes]
rs225262	0.81[ASN][1000 genomes]
rs225277	0.81[ASN][1000 genomes]
rs225295	0.84[ASN][1000 genomes]
rs225304	0.84[ASN][1000 genomes]
rs225306	0.83[ASN][1000 genomes]
rs2889311	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35237539	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7213476	0.90[ASN][1000 genomes]
rs7503168	0.81[AMR][1000 genomes]
rs9890191	0.96[ASN][1000 genomes]
rs9891574	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9897552	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9899860	0.98[ASN][1000 genomes]
rs9899927	0.98[ASN][1000 genomes]
rs9900378	0.84[ASN][1000 genomes]
rs9902765	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9907772	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9913875	0.98[ASN][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	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
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33915200-33930600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:33915200-33932600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr17:33915600-33954600	Weak transcription	Small Intestine	intestine
4	chr17:33916000-33923800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr17:33916000-33942000	Weak transcription	Right Atrium	heart
6	chr17:33916400-33924200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr17:33916400-33944800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr17:33916600-33923800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr17:33916800-33923800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr17:33916800-33924600	Weak transcription	Brain Substantia Nigra	brain
11	chr17:33916800-33925200	Weak transcription	Fetal Brain Male	brain
12	chr17:33916800-33925200	Weak transcription	Fetal Kidney	kidney
13	chr17:33916800-33945400	Weak transcription	Stomach Mucosa	stomach
14	chr17:33916800-34001200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr17:33917600-33923800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr17:33917600-33934600	Weak transcription	Brain Angular Gyrus	brain
17	chr17:33919400-33940000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr17:33919600-33931000	Strong transcription	K562	blood
19	chr17:33920000-33937400	Strong transcription	A549	lung
20	chr17:33920400-33936400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr17:33920600-33926600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr17:33920600-33939800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr17:33920600-33939800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr17:33920600-33939800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr17:33920600-33940000	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr17:33920600-33940200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr17:33920600-33942200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr17:33920600-33942800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr17:33920600-33944000	Strong transcription	Dnd41	blood
30	chr17:33920600-33969800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr17:33920800-33926200	Strong transcription	Primary B cells from cord blood	blood
32	chr17:33920800-33931000	Strong transcription	GM12878-XiMat	blood
33	chr17:33920800-33931000	Strong transcription	Osteobl	bone
34	chr17:33920800-33938400	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr17:33920800-33975800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr17:33921000-33925800	Strong transcription	Hela-S3	cervix
37	chr17:33921000-33926600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr17:33921000-33926800	Strong transcription	HMEC	breast
39	chr17:33921000-33930600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr17:33921000-33930800	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr17:33921000-33930800	Strong transcription	NH-A	brain
42	chr17:33921000-33931400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr17:33921000-33931600	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr17:33921000-33932000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr17:33921000-33937200	Strong transcription	Placenta	Placenta
46	chr17:33921000-33939800	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr17:33921000-33939800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr17:33921000-33940400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr17:33921000-33941400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr17:33921000-33942200	Strong transcription	Primary neutrophils fromperipheralblood	blood

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