Variant report

Variant	rs7151149
Chromosome Location	chr14:34969433-34969434
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:34807683..34809486-chr14:34968759..34971565,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs11156846	0.90[ASN][1000 genomes]
rs11628734	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11849103	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12147182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878942	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12882143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12882266	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12884423	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12892302	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4268663	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4290395	0.86[CHB][hapmap];0.90[CHD][hapmap];0.90[ASN][1000 genomes]
rs4592560	0.90[ASN][1000 genomes]
rs4606620	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4611360	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4612961	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61981499	0.95[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs61981519	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs66485163	0.90[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7147728	0.95[ASN][1000 genomes]
rs7149996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150623	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7151108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003128	0.95[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs8004589	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8013169	0.91[ASN][1000 genomes]
rs8020772	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv1051104	chr14:34592378-35007083	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv949738	chr14:34616331-34990688	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv564192	chr14:34725233-34996507	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv564193	chr14:34728127-35000188	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv528989	chr14:34744426-34998705	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1054949	chr14:34834260-34992049	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv542025	chr14:34834260-34992049	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv1050218	chr14:34851521-34969433	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv1048369	chr14:34886956-34974774	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv901600	chr14:34895977-35010041	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv1037857	chr14:34943388-35007724	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	nsv542026	chr14:34943388-35007724	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
14	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
15	nsv1049048	chr14:34969406-35048672	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS 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 target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7151149	C14orf147	cis	Liver	GTEx
rs7151149	EAPP	cis	parietal	SCAN
rs7151149	FAM43B	trans	parietal	SCAN
rs7151149	C14orf147	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34966400-34985400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:34966600-34971400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr14:34966600-34971600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr14:34966800-34971600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr14:34967000-34971200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:34967000-34971200	Weak transcription	HSMM	muscle
7	chr14:34967000-34971200	Weak transcription	NH-A	brain
8	chr14:34967000-34971400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:34967000-34971400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:34967000-34971400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:34967000-34971400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:34967000-34971400	Weak transcription	HUVEC	blood vessel
13	chr14:34967000-34971600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:34967000-34971600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr14:34967000-34971800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr14:34967000-34985200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr14:34967000-34985200	Weak transcription	Fetal Lung	lung
18	chr14:34967200-34970600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:34967200-34970800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:34967200-34971200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:34967200-34971200	Weak transcription	NHDF-Ad	bronchial
22	chr14:34967200-34971400	Weak transcription	Ovary	ovary
23	chr14:34967400-34971200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr14:34967400-34971600	Weak transcription	Fetal Muscle Leg	muscle
25	chr14:34967600-34969600	Enhancers	HepG2	liver
26	chr14:34967600-34971000	Weak transcription	Osteobl	bone
27	chr14:34967600-34971200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:34967600-34972000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:34967600-34972000	Weak transcription	Colonic Mucosa	Colon
30	chr14:34967600-34985200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr14:34967800-34971000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:34967800-34971000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr14:34967800-34971200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr14:34967800-34971200	Weak transcription	NHEK	skin
35	chr14:34967800-34984800	Weak transcription	Fetal Stomach	stomach
36	chr14:34968000-34971400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr14:34968000-34971600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:34968400-34971400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr14:34968400-34974400	Weak transcription	Fetal Intestine Large	intestine
40	chr14:34968400-34975200	Weak transcription	Stomach Mucosa	stomach
41	chr14:34968400-34984800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr14:34969200-34971400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr14:34969400-34969800	Enhancers	Liver	Liver
44	chr14:34969400-34969800	Enhancers	Duodenum Mucosa	Duodenum
45	chr14:34969400-34969800	Enhancers	Fetal Intestine Small	intestine
46	chr14:34969400-34969800	Enhancers	A549	lung

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