Variant report

Variant	rs17050922
Chromosome Location	chr3:50157235-50157236
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50153410..50155870-chr3:50157177..50159023,3	K562	blood:
2	chr3:50156913..50158492-chr3:50221059..50222752,2	K562	blood:
3	chr3:50157123..50160509-chr3:50182287..50185771,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000001617	Chromatin interaction
ENSG00000003756	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1110295	1.00[AMR][1000 genomes]
rs17050885	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17050913	1.00[ASW][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59112948	1.00[AMR][1000 genomes]
rs59325781	1.00[AMR][1000 genomes]
rs60564525	1.00[AMR][1000 genomes]
rs61689372	1.00[AMR][1000 genomes]
rs72931482	1.00[AMR][1000 genomes]
rs72932915	1.00[AMR][1000 genomes]
rs72932918	1.00[AMR][1000 genomes]
rs72932925	1.00[AMR][1000 genomes]
rs72932949	1.00[AMR][1000 genomes]
rs72932966	1.00[AMR][1000 genomes]
rs72932994	1.00[AMR][1000 genomes]
rs72934811	1.00[AMR][1000 genomes]
rs72936964	1.00[AMR][1000 genomes]
rs7611074	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834690	chr3:50101835-50267584	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv515986	chr3:50104307-50267584	Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv432418	chr3:50114496-50224196	Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1001775	chr3:50129479-50311666	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv818139	chr3:50144951-50174572	Weak transcription Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv876768	chr3:50144951-50267584	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
8	nsv1013949	chr3:50151712-50339163	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv590250	chr3:50153356-50332697	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	nsv876769	chr3:50155468-50408398	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
11	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
12	esv3386929	chr3:50156348-50161346	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17050922	HEMK	cis	multi-tissue	Pritchard
rs17050922	HEMK1	cis	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50127800-50157800	Strong transcription	H9 Cell Line	embryonic stem cell
2	chr3:50128000-50157800	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr3:50128000-50158000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
4	chr3:50128000-50158000	Strong transcription	Fetal Muscle Trunk	muscle
5	chr3:50128200-50158800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:50128400-50157800	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:50128400-50158200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:50128400-50158400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:50128400-50159000	Strong transcription	Lung	lung
10	chr3:50128600-50158000	Strong transcription	NH-A	brain
11	chr3:50128600-50158400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:50128600-50158400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr3:50128600-50158600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:50128600-50158600	Strong transcription	Colonic Mucosa	Colon
15	chr3:50128600-50158800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:50128600-50158800	Strong transcription	Brain Germinal Matrix	brain
17	chr3:50128600-50158800	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr3:50128600-50159000	Strong transcription	Brain Angular Gyrus	brain
19	chr3:50128600-50159000	Strong transcription	Placenta	Placenta
20	chr3:50128600-50159000	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr3:50128600-50159200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:50128600-50159200	Strong transcription	Liver	Liver
23	chr3:50128600-50159200	Strong transcription	NHEK	skin
24	chr3:50128600-50160400	Strong transcription	Fetal Thymus	thymus
25	chr3:50128800-50158600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:50128800-50158600	Strong transcription	HMEC	breast
27	chr3:50128800-50159000	Strong transcription	Brain Anterior Caudate	brain
28	chr3:50129000-50158600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr3:50129000-50158600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr3:50129000-50158800	Strong transcription	Fetal Intestine Large	intestine
31	chr3:50129000-50159000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr3:50129000-50159200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:50129000-50159200	Strong transcription	Primary B cells from peripheral blood	blood
34	chr3:50129000-50159400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr3:50129000-50159400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr3:50129000-50160000	Strong transcription	Fetal Stomach	stomach
37	chr3:50129000-50160000	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr3:50129000-50160800	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr3:50129200-50157600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
40	chr3:50129200-50158600	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr3:50129200-50158800	Strong transcription	Primary B cells from cord blood	blood
42	chr3:50129200-50158800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr3:50129200-50158800	Strong transcription	Brain Hippocampus Middle	brain
44	chr3:50129200-50159000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:50129200-50159600	Strong transcription	Stomach Smooth Muscle	stomach
46	chr3:50129200-50160000	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr3:50129200-50160200	Strong transcription	Fetal Brain Female	brain
48	chr3:50129400-50158800	Strong transcription	Pancreas	Pancrea
49	chr3:50129400-50159400	Strong transcription	Spleen	Spleen
50	chr3:50129600-50157800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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