Variant report

Variant	rs7141276
Chromosome Location	chr14:35135186-35135187
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35129877..35132741-chr14:35133755..35136058,2	MCF-7	breast:
2	chr14:35130824..35132535-chr14:35133653..35135571,2	K562	blood:
3	chr14:35016452..35018611-chr14:35133910..35135545,2	K562	blood:
4	chr14:35120647..35123453-chr14:35134189..35136107,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10148108	0.99[ASN][1000 genomes]
rs10400782	0.99[ASN][1000 genomes]
rs12050105	0.99[ASN][1000 genomes]
rs12050472	0.99[ASN][1000 genomes]
rs12589442	0.80[CHD][hapmap];0.80[JPT][hapmap]
rs28630552	0.99[ASN][1000 genomes]
rs34046671	0.96[ASN][1000 genomes]
rs4981246	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59216459	0.90[ASN][1000 genomes]
rs7158437	1.00[ASN][1000 genomes]
rs8009551	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers 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 target site	63 gene(s)	inside rSNPs	diseases
3	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1038360	chr14:35040853-35152886	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	45 gene(s)	inside rSNPs	diseases
6	nsv564195	chr14:35107957-35153991	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1038792	chr14:35108080-35160860	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1053843	chr14:35110120-35167640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv542028	chr14:35110120-35167640	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1049026	chr14:35110285-35160860	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv564196	chr14:35110512-35152084	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv564198	chr14:35118196-35152084	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv542029	chr14:35118620-35152886	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
14	esv3308372	chr14:35128027-35136679	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3309373	chr14:35128041-35136675	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv564199	chr14:35135186-35167362	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Response to anti-TNF treatment in rheumatoid arthritis	23555300	GWAS catalog

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7141276	KIAA0391	cis	cerebellum	SCAN
rs7141276	AKAP6	cis	parietal	SCAN
rs7141276	EAPP	cis	parietal	SCAN
rs7141276	EAPP	cis	cerebellum	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35133000-35136200	Weak transcription	Placenta	Placenta
2	chr14:35134200-35135200	Enhancers	A549	lung
3	chr14:35134200-35135400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:35134200-35136000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr14:35134200-35136400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:35134200-35136400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:35134200-35136400	Enhancers	HUVEC	blood vessel
8	chr14:35134200-35136400	Enhancers	NHLF	lung
9	chr14:35134200-35136600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr14:35134200-35136600	Enhancers	NHDF-Ad	bronchial
11	chr14:35134400-35135200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:35134400-35136000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:35134400-35136200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr14:35134400-35136400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr14:35134400-35137000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:35134400-35139200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:35134600-35135200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:35134600-35135800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr14:35134600-35136000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr14:35134600-35136000	Enhancers	Hela-S3	cervix
21	chr14:35134600-35136000	Enhancers	Osteobl	bone
22	chr14:35134600-35136400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr14:35134600-35136600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr14:35134600-35137800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:35134800-35135200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr14:35134800-35135600	Enhancers	Fetal Stomach	stomach
27	chr14:35134800-35135800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:35134800-35136000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:35134800-35136000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr14:35134800-35136000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:35134800-35136400	Enhancers	Primary hematopoietic stem cells	blood
32	chr14:35135000-35135600	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr14:35135000-35135800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:35135000-35135800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:35135000-35135800	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr14:35135000-35135800	Enhancers	Fetal Kidney	kidney
37	chr14:35135000-35135800	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr14:35135000-35136000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:35135000-35136000	Enhancers	Primary T cells from cord blood	blood
40	chr14:35135000-35136000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr14:35135000-35136000	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr14:35135000-35136000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:35135000-35136000	Enhancers	HSMM	muscle
44	chr14:35135000-35136000	Enhancers	NHEK	skin
45	chr14:35135000-35136200	Weak transcription	Fetal Muscle Leg	muscle
46	chr14:35135000-35136200	Enhancers	HMEC	breast

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