Variant report

Variant	rs2700470
Chromosome Location	chr3:150906689-150906690
allele	C/T
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:13)

rs_ID	r²[population]
rs1017348	0.91[EUR][1000 genomes]
rs1220998	0.84[ASN][1000 genomes]
rs1221002	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1221003	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1221004	0.94[ASN][1000 genomes]
rs1231519	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1231520	0.86[ASN][1000 genomes]
rs1920397	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2141630	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2567325	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4680158	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57504644	0.89[ASN][1000 genomes]
rs6440722	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460894	chr3:150770614-151095093	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv592045	chr3:150770614-151095093	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2757897	chr3:150791625-150957485	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2759188	chr3:150791625-150957485	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150872800-150910800	Weak transcription	Brain Germinal Matrix	brain
2	chr3:150873200-150910200	Weak transcription	Brain Angular Gyrus	brain
3	chr3:150873800-150913800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:150878000-150946000	Weak transcription	Placenta	Placenta
5	chr3:150889200-150908200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:150889200-150914800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:150889600-150913800	Weak transcription	Fetal Muscle Leg	muscle
8	chr3:150890600-150923400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr3:150896200-150927800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:150896600-150918200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:150897200-150916200	Weak transcription	Fetal Intestine Small	intestine
12	chr3:150897600-150913800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr3:150898600-150917200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr3:150899000-150917000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:150900400-150910200	Weak transcription	Fetal Brain Female	brain
16	chr3:150900400-150917200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:150900600-150908400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr3:150900600-150917000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr3:150900800-150917200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr3:150901000-150908600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:150901200-150907000	Weak transcription	Thymus	Thymus
22	chr3:150901200-150917600	Weak transcription	Fetal Thymus	thymus
23	chr3:150901200-150917800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:150901400-150908400	Weak transcription	Dnd41	blood
25	chr3:150901400-150910200	Weak transcription	Brain Hippocampus Middle	brain
26	chr3:150901400-150911600	Weak transcription	Brain Substantia Nigra	brain
27	chr3:150901400-150914200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr3:150901400-150916200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr3:150901600-150906800	Weak transcription	HepG2	liver
30	chr3:150901600-150913600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:150901800-150918000	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr3:150902200-150916400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr3:150904200-150911800	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr3:150904400-150908200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr3:150904400-150908600	Weak transcription	Aorta	Aorta
36	chr3:150904600-150908400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr3:150904600-150914000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:150904600-150914000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr3:150904600-150915200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr3:150904800-150911800	Weak transcription	Brain Anterior Caudate	brain
41	chr3:150904800-150916200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:150906000-150907400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:150906000-150912400	Strong transcription	Primary hematopoietic stem cells	blood
44	chr3:150906400-150907200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr3:150906400-150907400	Enhancers	Primary T cells from cord blood	blood
46	chr3:150906600-150906800	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr3:150906600-150907400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:150906600-150907400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr3:150906600-150907600	Enhancers	Primary T helper cells PMA-I stimulated	--

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