Variant report

Variant	rs17050967
Chromosome Location	chr3:50423328-50423329
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50398149..50400701-chr3:50422132..50425114,2	MCF-7	breast:
2	chr3:50423026..50425468-chr3:50433598..50435342,2	K562	blood:
3	chr3:50420710..50423893-chr3:50432080..50434789,3	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs17050976	0.88[LWK][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17050977	0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2071804	0.81[AFR][1000 genomes]
rs57278600	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59113322	0.90[AFR][1000 genomes]
rs59164803	1.00[AMR][1000 genomes]
rs61601450	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72932949	0.80[AFR][1000 genomes]
rs72932966	0.80[AFR][1000 genomes]
rs72932994	0.84[AFR][1000 genomes]
rs72934811	0.81[AFR][1000 genomes]
rs72934837	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936957	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936959	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936962	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936972	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936978	0.87[AFR][1000 genomes]
rs72936980	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936982	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936987	0.87[AFR][1000 genomes]
rs72936989	0.90[AFR][1000 genomes]
rs72937000	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72937001	0.90[AFR][1000 genomes]
rs72938708	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938712	0.83[AFR][1000 genomes]
rs72938719	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7611074	0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh 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	99 gene(s)	inside rSNPs	diseases
6	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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 miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
8	nsv460531	chr3:50247824-50436827	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
9	nsv590255	chr3:50247824-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' 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	93 gene(s)	inside rSNPs	diseases
10	nsv876772	chr3:50255305-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
11	nsv876774	chr3:50302830-50436827	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
12	nsv876773	chr3:50302830-50480131	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
13	nsv834693	chr3:50302830-50507964	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
14	nsv876775	chr3:50324672-50504896	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
15	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
16	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
17	nsv876778	chr3:50413707-50465518	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
18	nsv590271	chr3:50420554-50436716	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17050967	HEMK1	cis	lymphoblastoid	seeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50408800-50423800	Weak transcription	Fetal Brain Female	brain
2	chr3:50411400-50430000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:50412800-50428000	Weak transcription	Right Ventricle	heart
4	chr3:50415200-50428400	Weak transcription	Brain Anterior Caudate	brain
5	chr3:50417000-50428000	Weak transcription	Gastric	stomach
6	chr3:50419600-50426200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:50420400-50423600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr3:50420600-50425200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:50421400-50428000	Weak transcription	Esophagus	oesophagus
10	chr3:50421600-50426800	Weak transcription	Fetal Intestine Small	intestine
11	chr3:50421600-50428200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:50421800-50423400	Enhancers	Brain Germinal Matrix	brain
13	chr3:50421800-50424000	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:50421800-50425600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:50422200-50423800	Enhancers	Primary hematopoietic stem cells	blood
16	chr3:50422200-50424000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:50422400-50428000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:50422600-50423400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:50422600-50426800	Enhancers	Fetal Brain Male	brain
20	chr3:50422600-50428000	Weak transcription	Lung	lung
21	chr3:50422800-50426400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr3:50423000-50423600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:50423200-50424000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:50423200-50424600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:50423200-50427200	Weak transcription	Spleen	Spleen

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