Variant report

Variant	rs17742621
Chromosome Location	chr14:55853724-55853725
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55851517..55854050-chr14:55862955..55864558,2	K562	blood:
2	chr14:55697987..55700374-chr14:55851952..55854394,2	K562	blood:
3	chr14:55851134..55854346-chr14:55857455..55859971,3	K562	blood:
4	chr14:55832794..55835676-chr14:55852395..55854057,2	K562	blood:
5	chr14:55831903..55834657-chr14:55852806..55855439,2	MCF-7	breast:
6	chr14:55851395..55854155-chr14:55863478..55865665,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126775	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs17671923	0.80[CEU][hapmap];1.00[ASN][1000 genomes]
rs17672376	0.80[CEU][hapmap];1.00[CHD][hapmap];0.85[MEX][hapmap];0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs17672950	0.80[CEU][hapmap];1.00[CHD][hapmap];0.85[MEX][hapmap];0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs17673930	0.80[CEU][hapmap];1.00[CHD][hapmap];0.85[MEX][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17675052	0.80[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17740413	0.80[CEU][hapmap];1.00[ASN][1000 genomes]
rs17741681	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17741825	0.80[CEU][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17743484	1.00[CHD][hapmap]
rs1959443	1.00[CHD][hapmap]
rs35070799	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35342573	0.94[AFR][1000 genomes]
rs41299199	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41437744	1.00[CHD][hapmap]
rs60505634	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs713473	1.00[CHD][hapmap]
rs713475	1.00[CHD][hapmap]
rs7141706	0.80[CEU][hapmap]
rs7160411	0.80[CEU][hapmap]
rs72717708	0.82[AFR][1000 genomes]
rs72717725	0.83[AFR][1000 genomes]
rs72717733	0.94[AFR][1000 genomes]
rs72717743	0.94[AFR][1000 genomes]
rs72717745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717746	0.94[AFR][1000 genomes]
rs72717748	0.94[AFR][1000 genomes]
rs72717749	0.94[AFR][1000 genomes]
rs72717751	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717752	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717759	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013528	0.91[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv901957	chr14:55819219-55853724	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS 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	20 gene(s)	inside rSNPs	diseases
4	nsv901959	chr14:55853724-55916225	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
5	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17742621	MAPK1IP1L	cis	cerebellum	SCAN
rs17742621	FBXO34	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55808800-55865200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:55818200-55877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:55818400-55858800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:55819400-55855200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:55821400-55865200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:55831000-55859400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:55831800-55858000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr14:55832400-55857800	Strong transcription	Liver	Liver
9	chr14:55836800-55877800	Weak transcription	Esophagus	oesophagus
10	chr14:55839400-55859200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr14:55839600-55858600	Strong transcription	Primary B cells from peripheral blood	blood
12	chr14:55840200-55858800	Strong transcription	Primary B cells from cord blood	blood
13	chr14:55840400-55856600	Strong transcription	Fetal Intestine Large	intestine
14	chr14:55840400-55856800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:55840600-55854200	Strong transcription	Brain Cingulate Gyrus	brain
16	chr14:55841000-55859000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:55841800-55855000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr14:55842000-55856200	Strong transcription	Fetal Muscle Leg	muscle
19	chr14:55842200-55856400	Strong transcription	Placenta	Placenta
20	chr14:55842400-55854200	Strong transcription	Brain Hippocampus Middle	brain
21	chr14:55842400-55855400	Strong transcription	Fetal Stomach	stomach
22	chr14:55843600-55855000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:55844000-55854800	Weak transcription	Fetal Brain Male	brain
24	chr14:55845000-55855200	Strong transcription	Fetal Intestine Small	intestine
25	chr14:55846000-55854800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:55847200-55855400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr14:55847200-55856800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:55848600-55856200	Strong transcription	HepG2	liver
29	chr14:55848600-55876600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr14:55848800-55854800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr14:55848800-55855000	Weak transcription	HMEC	breast
32	chr14:55848800-55855800	Weak transcription	Brain Angular Gyrus	brain
33	chr14:55848800-55861000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:55848800-55861200	Weak transcription	Small Intestine	intestine
35	chr14:55848800-55861800	Weak transcription	HUVEC	blood vessel
36	chr14:55848800-55864600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr14:55848800-55865000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:55849000-55855000	Weak transcription	NHDF-Ad	bronchial
39	chr14:55849000-55856000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr14:55849200-55876600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr14:55849200-55878000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:55849600-55855800	Weak transcription	Fetal Lung	lung
43	chr14:55849800-55865200	Weak transcription	A549	lung
44	chr14:55850000-55868400	Weak transcription	Right Ventricle	heart
45	chr14:55850200-55853800	Weak transcription	Brain Anterior Caudate	brain
46	chr14:55850200-55855000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr14:55850400-55856200	Strong transcription	Ovary	ovary
48	chr14:55850400-55856600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr14:55850400-55856600	Strong transcription	Fetal Brain Female	brain
50	chr14:55850400-55857000	Strong transcription	Primary T cells from cord blood	blood

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