Variant report

Variant	rs2257001
Chromosome Location	chr14:69058880-69058881
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2256637	1.00[EUR][1000 genomes]
rs2256860	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2256983	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2256988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2256994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2257000	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2257007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2257014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2257021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2257111	0.92[AFR][1000 genomes]
rs2257116	0.92[AFR][1000 genomes]
rs4899246	0.92[AFR][1000 genomes]
rs4902605	1.00[EUR][1000 genomes]
rs59490067	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1795754	chr14:69017623-69079110	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv1832715	chr14:69017623-69079110	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69047400-69060200	Weak transcription	Spleen	Spleen
2	chr14:69049800-69064000	Enhancers	Fetal Muscle Leg	muscle
3	chr14:69051200-69061800	Enhancers	Fetal Stomach	stomach
4	chr14:69052600-69060400	Weak transcription	Osteobl	bone
5	chr14:69052800-69059600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:69052800-69064800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:69053400-69064800	Weak transcription	Brain Substantia Nigra	brain
8	chr14:69054200-69063400	Weak transcription	Small Intestine	intestine
9	chr14:69054400-69060400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:69054600-69060400	Weak transcription	Fetal Brain Male	brain
11	chr14:69054600-69061000	Weak transcription	NHEK	skin
12	chr14:69054800-69060200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:69054800-69060200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:69054800-69060600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:69054800-69060600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:69054800-69061400	Enhancers	Rectal Smooth Muscle	rectum
17	chr14:69055000-69060200	Weak transcription	Fetal Brain Female	brain
18	chr14:69055200-69060400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:69056000-69061000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr14:69056200-69060400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:69056400-69060400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:69056600-69060000	Weak transcription	A549	lung
23	chr14:69056600-69060200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr14:69056600-69060400	Weak transcription	NH-A	brain
25	chr14:69056800-69059400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr14:69056800-69059800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:69056800-69060200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:69056800-69060200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:69056800-69060400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:69056800-69060400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr14:69057000-69059000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr14:69057000-69059200	Weak transcription	HepG2	liver
33	chr14:69057000-69059400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:69057000-69059400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr14:69057000-69059800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr14:69057000-69060400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr14:69057000-69060400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:69057000-69060600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:69057000-69061400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:69057000-69065800	Weak transcription	Gastric	stomach
41	chr14:69057200-69059400	Weak transcription	HSMM	muscle
42	chr14:69057200-69059800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:69057200-69060000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr14:69057200-69060000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr14:69057200-69060200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr14:69057200-69060200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:69057200-69060200	Weak transcription	Primary T cells from cord blood	blood
48	chr14:69057200-69060400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:69057200-69060400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:69057200-69060600	Weak transcription	Fetal Heart	heart

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