Variant report

Variant	rs7151112
Chromosome Location	chr14:46020915-46020916
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10142974	1.00[EUR][1000 genomes]
rs10143197	1.00[EUR][1000 genomes]
rs10145394	1.00[EUR][1000 genomes]
rs1266271	1.00[EUR][1000 genomes]
rs1266285	1.00[EUR][1000 genomes]
rs1613188	1.00[EUR][1000 genomes]
rs1686232	1.00[EUR][1000 genomes]
rs1686236	1.00[EUR][1000 genomes]
rs17116172	1.00[EUR][1000 genomes]
rs17116174	1.00[EUR][1000 genomes]
rs1750084	1.00[EUR][1000 genomes]
rs1750086	1.00[EUR][1000 genomes]
rs1770931	1.00[EUR][1000 genomes]
rs1957397	1.00[EUR][1000 genomes]
rs2183485	1.00[EUR][1000 genomes]
rs57795005	1.00[EUR][1000 genomes]
rs7147938	1.00[EUR][1000 genomes]
rs7150880	1.00[AFR][1000 genomes]
rs7151323	1.00[EUR][1000 genomes]
rs7151398	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7152047	1.00[EUR][1000 genomes]
rs7152379	1.00[EUR][1000 genomes]
rs74044190	1.00[EUR][1000 genomes]
rs74044192	1.00[EUR][1000 genomes]
rs8004089	1.00[EUR][1000 genomes]
rs8004461	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8007164	1.00[EUR][1000 genomes]
rs8007355	1.00[EUR][1000 genomes]
rs8019757	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530814	chr14:45604432-46198418	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv901844	chr14:45606287-46063731	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1042989	chr14:45774194-46489107	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv901847	chr14:45797782-46607899	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1042444	chr14:45826044-46023935	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1043014	chr14:45826044-46024979	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1049898	chr14:45831717-46035912	Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv542082	chr14:45831717-46035912	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv2422441	chr14:45848850-46325684	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv901848	chr14:45932515-46024675	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1035463	chr14:45940562-46201777	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv542083	chr14:45940562-46201777	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv901849	chr14:45941995-46022500	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv1036815	chr14:45957602-46051628	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv976289	chr14:45973774-46282154	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv901850	chr14:45994633-46081072	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv1044871	chr14:46007760-46432325	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46020200-46021000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr14:46020200-46021000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr14:46020200-46021000	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr14:46020200-46021200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr14:46020200-46021200	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr14:46020200-46021400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr14:46020400-46021200	Active TSS	H1 Cell Line	embryonic stem cell
8	chr14:46020400-46021200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr14:46020600-46021000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:46020600-46021000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:46020600-46021000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:46020600-46021000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:46020600-46021000	Active TSS	Liver	Liver
14	chr14:46020600-46021000	Active TSS	Colonic Mucosa	Colon
15	chr14:46020600-46021000	Active TSS	Fetal Intestine Large	intestine
16	chr14:46020600-46021000	Active TSS	Gastric	stomach
17	chr14:46020600-46021000	Active TSS	Pancreas	Pancrea
18	chr14:46020600-46021000	Active TSS	Stomach Mucosa	stomach
19	chr14:46020600-46021200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr14:46020600-46021200	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr14:46020600-46021200	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr14:46020600-46021200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:46020600-46021200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:46020600-46021200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:46020600-46021200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:46020600-46021200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr14:46020600-46021200	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr14:46020600-46021200	Active TSS	Rectal Smooth Muscle	rectum
29	chr14:46020600-46021400	Active TSS	HMEC	breast
30	chr14:46020600-46021400	Active TSS	NHEK	skin
31	chr14:46020800-46021000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:46020800-46021000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:46020800-46021000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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