Variant report

Variant	rs1252961
Chromosome Location	chr14:45719380-45719381
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1252952	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252953	1.00[AMR][1000 genomes]
rs1252954	1.00[AMR][1000 genomes]
rs1252956	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252964	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252965	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1262124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1268577	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1268578	1.00[AMR][1000 genomes]
rs1269008	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1272103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61741577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61745871	1.00[AMR][1000 genomes]
rs941878	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	40 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv1044445	chr14:45606779-45807171	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv901845	chr14:45619217-45772910	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1045297	chr14:45631260-45755992	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers 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	15 gene(s)	inside rSNPs	diseases
10	nsv901846	chr14:45702358-45783546	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv564726	chr14:45702358-45911581	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	esv2758357	chr14:45706082-45982410	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	esv2759987	chr14:45706082-45982410	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45633800-45721200	Weak transcription	Aorta	Aorta
2	chr14:45682000-45721200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:45682400-45720400	Weak transcription	Brain Germinal Matrix	brain
4	chr14:45684800-45719400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:45692200-45719800	Weak transcription	Esophagus	oesophagus
6	chr14:45695000-45721600	Weak transcription	Pancreas	Pancrea
7	chr14:45700200-45719800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:45700200-45720800	Weak transcription	Fetal Kidney	kidney
9	chr14:45702400-45721200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:45702600-45720400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:45704600-45721200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr14:45704800-45721600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:45705400-45721200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:45707400-45720600	Weak transcription	HSMM	muscle
15	chr14:45708800-45721000	Weak transcription	Fetal Muscle Leg	muscle
16	chr14:45709000-45720600	Weak transcription	Fetal Intestine Large	intestine
17	chr14:45709200-45720400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr14:45709200-45720400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:45709200-45721600	Weak transcription	Left Ventricle	heart
20	chr14:45709800-45720600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:45710800-45720600	Weak transcription	Fetal Intestine Small	intestine
22	chr14:45711800-45719400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr14:45715600-45719400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr14:45715600-45719400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:45715600-45719600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:45716000-45719400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr14:45716600-45720600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr14:45716600-45722000	Weak transcription	Stomach Mucosa	stomach
29	chr14:45716800-45719400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr14:45717600-45721200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr14:45718000-45720400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr14:45718000-45720600	Enhancers	Primary B cells from peripheral blood	blood
33	chr14:45718000-45721000	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr14:45718000-45721400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:45718400-45719600	Active TSS	Duodenum Mucosa	Duodenum
36	chr14:45718400-45721000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr14:45718400-45721200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:45718600-45719800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr14:45718600-45719800	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr14:45718600-45721200	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr14:45718800-45719400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr14:45718800-45719400	Enhancers	Fetal Stomach	stomach
43	chr14:45718800-45719800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr14:45718800-45719800	Enhancers	HepG2	liver
45	chr14:45718800-45720000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr14:45718800-45720400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr14:45718800-45720400	Enhancers	Fetal Thymus	thymus
48	chr14:45718800-45720600	Enhancers	Primary T cells from cord blood	blood
49	chr14:45718800-45720600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:45718800-45722800	Active TSS	Rectal Mucosa Donor 29	rectum

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