Variant report

Variant	rs2267750
Chromosome Location	chr14:78080668-78080669
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78080102..78083060-chr14:78184904..78187965,3	K562	blood:
2	chr14:78078614..78081375-chr14:78084834..78087635,2	MCF-7	breast:
3	chr14:78064657..78067063-chr14:78079647..78083000,3	MCF-7	breast:
4	chr14:78068423..78071899-chr14:78079739..78082860,4	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10129280	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10137398	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10139059	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10140195	0.81[CHB][hapmap]
rs10146161	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10873309	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11624561	0.81[ASN][1000 genomes]
rs11626349	0.85[CHB][hapmap];0.95[CHD][hapmap];0.81[ASN][1000 genomes]
rs12887526	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176901	0.81[CHB][hapmap];0.93[CHD][hapmap]
rs1861942	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1990806	0.80[CHB][hapmap]
rs2267746	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2267747	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2267748	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2267749	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2267754	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2299920	0.81[CHD][hapmap]
rs2299921	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2299922	0.81[CHB][hapmap];0.90[CHD][hapmap]
rs2299923	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2299924	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2299925	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2299927	0.81[CHB][hapmap];0.91[CHD][hapmap]
rs2299928	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4899660	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4899661	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4903614	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7144314	0.85[CHD][hapmap]
rs7151742	0.81[ASN][1000 genomes]
rs7157356	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8008258	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8021376	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8021660	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9944097	0.81[CHB][hapmap];0.88[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1051554	chr14:78004196-78122980	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2267750	NEK9	cis	parietal	SCAN
rs2267750	COQ6	cis	parietal	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78055000-78081600	Weak transcription	Right Ventricle	heart
2	chr14:78057600-78081400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:78063400-78081600	Weak transcription	Fetal Stomach	stomach
4	chr14:78065600-78081400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr14:78069200-78081600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:78070200-78081600	Weak transcription	Liver	Liver
7	chr14:78070400-78081400	Weak transcription	Fetal Muscle Leg	muscle
8	chr14:78070600-78081400	Weak transcription	Ovary	ovary
9	chr14:78070600-78081600	Weak transcription	Esophagus	oesophagus
10	chr14:78072400-78081200	Weak transcription	Fetal Heart	heart
11	chr14:78072400-78081600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr14:78072800-78081400	Weak transcription	Colonic Mucosa	Colon
13	chr14:78073400-78081600	Weak transcription	Psoas Muscle	Psoas
14	chr14:78074200-78081400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:78074600-78081200	Weak transcription	Fetal Intestine Large	intestine
16	chr14:78074600-78081400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:78074600-78081400	Weak transcription	Right Atrium	heart
18	chr14:78074600-78081600	Weak transcription	Fetal Thymus	thymus
19	chr14:78074800-78081400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:78075600-78082000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:78076600-78082000	Weak transcription	Gastric	stomach
22	chr14:78076800-78081600	Weak transcription	Lung	lung
23	chr14:78077200-78082000	Weak transcription	Spleen	Spleen
24	chr14:78077600-78081200	Enhancers	Brain Hippocampus Middle	brain
25	chr14:78078200-78081200	Enhancers	Primary B cells from cord blood	blood
26	chr14:78078200-78081400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:78078200-78082000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:78078400-78080800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr14:78078400-78080800	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr14:78078400-78081000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:78078400-78081200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr14:78078400-78081200	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr14:78078400-78081400	Enhancers	HepG2	liver
34	chr14:78078400-78081400	Enhancers	HUVEC	blood vessel
35	chr14:78078600-78081200	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr14:78078600-78081400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr14:78078600-78081400	Weak transcription	Fetal Brain Female	brain
38	chr14:78078800-78081400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr14:78078800-78081600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr14:78079000-78081400	Weak transcription	Adipose Nuclei	Adipose
41	chr14:78079000-78081600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr14:78079200-78081400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr14:78079200-78081400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:78079200-78081400	Weak transcription	Fetal Kidney	kidney
45	chr14:78079400-78080800	Enhancers	Primary T cells from cord blood	blood
46	chr14:78079400-78080800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:78079400-78080800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:78079400-78080800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:78079400-78081400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr14:78079400-78081600	Enhancers	Primary B cells from peripheral blood	blood

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