Variant report

Variant	rs229621
Chromosome Location	chr14:65200821-65200822
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs106111	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs179336	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs229606	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs229626	0.82[GIH][hapmap]
rs229644	0.82[GIH][hapmap]
rs229650	0.82[GIH][hapmap]
rs229661	0.83[ASN][1000 genomes]
rs229676	0.90[JPT][hapmap]
rs2357777	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
5	nsv902023	chr14:65200821-65243885	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv902024	chr14:65200821-65244950	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs229621	ZBTB1	cis	cerebellum	SCAN
rs229621	OR4D6	trans	cerebellum	SCAN
rs229621	EIF2S1	cis	parietal	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65184000-65208800	Weak transcription	Fetal Brain Male	brain
2	chr14:65189800-65207000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:65192400-65210400	Weak transcription	Osteobl	bone
4	chr14:65193200-65212200	Weak transcription	Fetal Heart	heart
5	chr14:65193400-65212400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:65193400-65212400	Weak transcription	HSMMtube	muscle
7	chr14:65193600-65203200	Strong transcription	Fetal Stomach	stomach
8	chr14:65193600-65209200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:65193600-65212800	Weak transcription	HUVEC	blood vessel
10	chr14:65193800-65201200	Strong transcription	Fetal Muscle Leg	muscle
11	chr14:65193800-65212200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:65193800-65214400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr14:65194000-65201200	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr14:65194000-65203000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:65194000-65203000	Strong transcription	Placenta	Placenta
16	chr14:65194000-65209000	Weak transcription	Small Intestine	intestine
17	chr14:65194200-65201000	Strong transcription	Ovary	ovary
18	chr14:65194200-65204800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:65194200-65216200	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:65194400-65201000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr14:65194400-65201200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:65194600-65202800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr14:65194600-65203000	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr14:65194800-65201200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr14:65195000-65201600	Strong transcription	HMEC	breast
26	chr14:65195000-65202400	Strong transcription	NHEK	skin
27	chr14:65195000-65207200	Weak transcription	Primary B cells from cord blood	blood
28	chr14:65195200-65202600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:65195800-65201000	Strong transcription	Brain Anterior Caudate	brain
30	chr14:65195800-65203000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr14:65196000-65208200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:65196200-65201800	Strong transcription	Fetal Intestine Small	intestine
33	chr14:65196600-65201200	Strong transcription	Fetal Intestine Large	intestine
34	chr14:65196600-65203400	Weak transcription	Right Atrium	heart
35	chr14:65196600-65212200	Weak transcription	NHLF	lung
36	chr14:65197000-65202800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:65197000-65203000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:65197000-65203200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr14:65197200-65201000	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr14:65197200-65201600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr14:65197200-65201800	Weak transcription	Fetal Thymus	thymus
42	chr14:65197200-65202200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr14:65197200-65206000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:65197400-65202000	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr14:65197800-65203000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:65198000-65214800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:65198600-65202200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:65199000-65202800	Weak transcription	HepG2	liver
49	chr14:65199000-65205200	Weak transcription	NH-A	brain
50	chr14:65199200-65202600	Weak transcription	Fetal Kidney	kidney

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