Variant report

Variant	rs17050885
Chromosome Location	chr3:49965685-49965686
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:49965505..49970003-chr3:49975811..49980300,11	K562	blood:
2	chr3:49965568..49971141-chr3:49975411..49979217,7	MCF-7	breast:
3	chr3:49964076..49966567-chr3:49968283..49970694,2	K562	blood:
4	chr3:49965505..49970003-chr3:49974970..49980028,17	K562	blood:
5	chr3:49942412..49944768-chr3:49963450..49966212,4	K562	blood:

Variant related genes	Relation type
ENSG00000004534	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1110295	1.00[AMR][1000 genomes]
rs17050913	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17050922	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs59112948	1.00[AMR][1000 genomes]
rs59325781	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60564525	1.00[AMR][1000 genomes]
rs61689372	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931482	1.00[AMR][1000 genomes]
rs72932915	1.00[AMR][1000 genomes]
rs72936049	1.00[AMR][1000 genomes]
rs72936059	1.00[AMR][1000 genomes]
rs7611074	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv834689	chr3:49962930-50085119	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17050885	HEMK1	cis	lymphoblastoid	seeQTL

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49943800-49966000	Weak transcription	Psoas Muscle	Psoas
2	chr3:49944200-49966000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr3:49944400-49966000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr3:49944400-49966000	Weak transcription	HUVEC	blood vessel
5	chr3:49946800-49965800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:49948000-49966800	Weak transcription	Fetal Heart	heart
7	chr3:49948800-49966000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr3:49949000-49966200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:49949800-49965800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr3:49949800-49966800	Weak transcription	Aorta	Aorta
11	chr3:49950000-49965800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr3:49950200-49966000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr3:49950400-49965800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr3:49950600-49965800	Weak transcription	Colon Smooth Muscle	Colon
15	chr3:49950600-49966000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr3:49950600-49966000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:49950600-49966000	Weak transcription	Brain Germinal Matrix	brain
18	chr3:49950600-49966000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr3:49950600-49966200	Weak transcription	Ovary	ovary
20	chr3:49950600-49966800	Weak transcription	Small Intestine	intestine
21	chr3:49950800-49965800	Weak transcription	Adipose Nuclei	Adipose
22	chr3:49950800-49965800	Weak transcription	Brain Anterior Caudate	brain
23	chr3:49950800-49965800	Weak transcription	Brain Substantia Nigra	brain
24	chr3:49950800-49965800	Weak transcription	Thymus	Thymus
25	chr3:49950800-49965800	Weak transcription	Spleen	Spleen
26	chr3:49950800-49966000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:49950800-49966400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:49953600-49966000	Weak transcription	Esophagus	oesophagus
29	chr3:49953800-49966000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr3:49954600-49965800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr3:49956200-49966000	Weak transcription	Primary B cells from cord blood	blood
32	chr3:49956400-49965800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr3:49956400-49966000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr3:49956400-49966000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr3:49957800-49966000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr3:49960600-49966800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr3:49961800-49965800	Weak transcription	Liver	Liver
38	chr3:49962200-49966000	Enhancers	Fetal Intestine Large	intestine
39	chr3:49962400-49965800	Weak transcription	Primary T cells from cord blood	blood
40	chr3:49962400-49965800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr3:49962400-49966000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr3:49962400-49966000	Weak transcription	NHLF	lung
43	chr3:49962400-49966400	Weak transcription	HSMMtube	muscle
44	chr3:49962600-49965800	Weak transcription	HSMM	muscle
45	chr3:49962600-49966000	Weak transcription	NHDF-Ad	bronchial
46	chr3:49962800-49966200	Weak transcription	NH-A	brain
47	chr3:49963600-49965800	Weak transcription	GM12878-XiMat	blood
48	chr3:49963600-49966000	Weak transcription	Hela-S3	cervix
49	chr3:49963800-49965800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:49963800-49965800	Weak transcription	Fetal Muscle Leg	muscle

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