Variant report

Variant	rs7141756
Chromosome Location	chr14:67760538-67760539
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10132093	0.81[CHB][hapmap]
rs1290900	0.83[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.92[MEX][hapmap];0.85[MKK][hapmap];0.81[TSI][hapmap];0.88[AMR][1000 genomes]
rs1952337	0.91[ASW][hapmap];0.84[CEU][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];0.88[YRI][hapmap]
rs2094163	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2296565	0.83[ASW][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];0.80[GIH][hapmap];0.81[LWK][hapmap]
rs6573765	0.83[CHB][hapmap]
rs764039	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8007868	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8015819	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902058	chr14:67310195-67760538	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv902059	chr14:67352226-67760538	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv902060	chr14:67417083-67760538	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv832821	chr14:67590418-67828169	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS 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
7	nsv1040257	chr14:67634585-67762806	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS 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	41 gene(s)	inside rSNPs	diseases
10	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
11	nsv902065	chr14:67739285-67819602	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7141756	FAM71D	cis	cerebellum	SCAN
rs7141756	EIF2S1	cis	multi-tissue	Pritchard
rs7141756	TMEM229B	cis	parietal	SCAN
rs7141756	EIF2S1	cis	lymphoblastoid	seeQTL

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67721400-67798400	Weak transcription	Hela-S3	cervix
2	chr14:67730800-67769800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr14:67732400-67810000	Weak transcription	Gastric	stomach
4	chr14:67734800-67768600	Weak transcription	GM12878-XiMat	blood
5	chr14:67735400-67771600	Weak transcription	NHEK	skin
6	chr14:67735400-67778600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:67735400-67798400	Weak transcription	K562	blood
8	chr14:67735600-67770000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr14:67735600-67772000	Weak transcription	Lung	lung
10	chr14:67735600-67810000	Weak transcription	Aorta	Aorta
11	chr14:67736200-67768600	Weak transcription	Fetal Thymus	thymus
12	chr14:67736600-67762400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr14:67736600-67770600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:67737000-67768200	Weak transcription	HMEC	breast
15	chr14:67737000-67768400	Weak transcription	A549	lung
16	chr14:67737000-67769800	Weak transcription	Ovary	ovary
17	chr14:67737000-67777600	Weak transcription	HepG2	liver
18	chr14:67737200-67768000	Weak transcription	Osteobl	bone
19	chr14:67737200-67772200	Weak transcription	Fetal Muscle Leg	muscle
20	chr14:67737200-67801400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr14:67737400-67768600	Weak transcription	NHDF-Ad	bronchial
22	chr14:67738200-67778600	Weak transcription	HSMMtube	muscle
23	chr14:67738200-67786400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr14:67738400-67769200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:67738600-67772000	Weak transcription	Fetal Stomach	stomach
26	chr14:67739600-67770600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:67739800-67765600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:67739800-67768200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:67739800-67769600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:67739800-67769800	Weak transcription	Primary T cells from cord blood	blood
31	chr14:67739800-67770200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr14:67739800-67771600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:67739800-67778600	Weak transcription	Left Ventricle	heart
34	chr14:67740000-67769400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:67740000-67790600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:67743200-67771800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr14:67743400-67768600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:67744000-67762400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr14:67744400-67769400	Weak transcription	Fetal Lung	lung
40	chr14:67744400-67769600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr14:67746000-67769200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr14:67746200-67768600	Weak transcription	Adipose Nuclei	Adipose
43	chr14:67746400-67768600	Weak transcription	Primary B cells from cord blood	blood
44	chr14:67749200-67768600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:67749800-67762200	Weak transcription	Brain Hippocampus Middle	brain
46	chr14:67750000-67801400	Weak transcription	Fetal Heart	heart
47	chr14:67753000-67769400	Weak transcription	Fetal Kidney	kidney
48	chr14:67753200-67762600	Weak transcription	Brain Substantia Nigra	brain
49	chr14:67753600-67799200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr14:67753800-67791200	Weak transcription	Thymus	Thymus

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