Variant report

Variant	rs9913875
Chromosome Location	chr17:33939655-33939656
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:33933853..33936154-chr17:33937625..33939956,2	K562	blood:
2	chr17:33932060..33934877-chr17:33939469..33942065,2	MCF-7	breast:
3	chr17:33938753..33940790-chr17:34074661..34076841,2	K562	blood:
4	chr17:33933800..33936366-chr17:33936981..33942006,8	K562	blood:
5	chr17:33913439..33918333-chr17:33935583..33940121,6	K562	blood:
6	chr17:33929073..33932041-chr17:33938211..33940599,2	K562	blood:

Variant related genes	Relation type
ENSG00000006125	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1037590	0.85[ASN][1000 genomes]
rs1037592	0.98[ASN][1000 genomes]
rs11653357	0.98[ASN][1000 genomes]
rs11655803	0.99[ASN][1000 genomes]
rs11656138	0.82[ASN][1000 genomes]
rs11868206	0.94[ASN][1000 genomes]
rs12604067	0.99[ASN][1000 genomes]
rs12947592	0.98[ASN][1000 genomes]
rs12948669	0.98[ASN][1000 genomes]
rs1671656	0.83[ASN][1000 genomes]
rs16971217	0.99[ASN][1000 genomes]
rs16971227	0.99[ASN][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	0.81[ASN][1000 genomes]
rs225262	0.82[ASN][1000 genomes]
rs225277	0.82[ASN][1000 genomes]
rs225295	0.81[ASN][1000 genomes]
rs225304	0.82[ASN][1000 genomes]
rs225306	0.83[ASN][1000 genomes]
rs2889311	0.85[ASN][1000 genomes]
rs35237539	0.98[ASN][1000 genomes]
rs7213476	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9890191	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9891574	0.96[ASN][1000 genomes]
rs9897552	0.96[ASN][1000 genomes]
rs9899860	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9899927	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9900378	0.82[ASN][1000 genomes]
rs9902765	0.95[ASN][1000 genomes]
rs9907772	0.94[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	chr17:33915600-33954600	Weak transcription	Small Intestine	intestine
2	chr17:33916000-33942000	Weak transcription	Right Atrium	heart
3	chr17:33916400-33944800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr17:33916800-33945400	Weak transcription	Stomach Mucosa	stomach
5	chr17:33916800-34001200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr17:33919400-33940000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr17:33920600-33939800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr17:33920600-33939800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr17:33920600-33939800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:33920600-33940000	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr17:33920600-33940200	Strong transcription	Primary B cells from peripheral blood	blood
12	chr17:33920600-33942200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr17:33920600-33942800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr17:33920600-33944000	Strong transcription	Dnd41	blood
15	chr17:33920600-33969800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr17:33920800-33975800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr17:33921000-33939800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr17:33921000-33939800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr17:33921000-33940400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr17:33921000-33941400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:33921000-33942200	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr17:33921000-33943000	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr17:33921000-33946200	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr17:33921000-33946600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr17:33921000-34024400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:33921200-33939800	Strong transcription	Primary T cells from cord blood	blood
27	chr17:33921200-33939800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr17:33921200-33940000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr17:33921200-33940000	Strong transcription	Adipose Nuclei	Adipose
30	chr17:33921800-33939800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr17:33921800-33939800	Strong transcription	Fetal Muscle Trunk	muscle
32	chr17:33921800-33944000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr17:33923800-33940600	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr17:33924600-33939800	Strong transcription	Liver	Liver
35	chr17:33924600-33941400	Weak transcription	Psoas Muscle	Psoas
36	chr17:33926000-33955200	Weak transcription	Pancreas	Pancrea
37	chr17:33926200-33943800	Weak transcription	Fetal Heart	heart
38	chr17:33926800-33952600	Weak transcription	Fetal Brain Male	brain
39	chr17:33929800-33942200	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr17:33931000-34040200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:33931800-33942400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr17:33932400-33940000	Strong transcription	Duodenum Mucosa	Duodenum
43	chr17:33932400-33942200	Strong transcription	Fetal Muscle Leg	muscle
44	chr17:33932600-33940000	Strong transcription	HUVEC	blood vessel
45	chr17:33932600-33942000	Strong transcription	Fetal Lung	lung
46	chr17:33932600-33943000	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr17:33933000-33943000	Strong transcription	Osteobl	bone
48	chr17:33933000-33967400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr17:33933000-33997800	Weak transcription	Esophagus	oesophagus
50	chr17:33933200-33940800	Strong transcription	NHDF-Ad	bronchial

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