Variant report

Variant	rs2343374
Chromosome Location	chr14:56583421-56583422
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:56583196-56583642	H1-neurons	neurons:	n/a	n/a
2	ATF1	chr14:56583325-56583525	K562	blood:	n/a	n/a
3	POLR2A	chr14:56583234-56583605	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56582513..56585426-chr14:56585434..56588675,3	K562	blood:

Variant related genes	Relation type
PELI2	TF binding region
ENSG00000139946	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1046597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs241515	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs241516	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs241517	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs241519	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs241520	0.83[EUR][1000 genomes]
rs241548	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs241550	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs241557	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs241559	0.91[EUR][1000 genomes]
rs241560	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs241566	0.81[EUR][1000 genomes]
rs241567	0.88[ASN][1000 genomes]
rs242387	0.84[EUR][1000 genomes]
rs242388	0.88[CEU][hapmap];0.81[CHB][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3912202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7151231	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7156867	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7157440	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56579800-56584200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr14:56582000-56583800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr14:56582000-56584200	Enhancers	Primary T cells from cord blood	blood
4	chr14:56582000-56584200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:56582000-56584200	Enhancers	Fetal Brain Male	brain
6	chr14:56582200-56583600	Enhancers	Pancreas	Pancrea
7	chr14:56582200-56584000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr14:56582200-56584000	Enhancers	Fetal Brain Female	brain
9	chr14:56582200-56584200	Enhancers	Fetal Thymus	thymus
10	chr14:56582200-56584600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr14:56582400-56584200	Enhancers	Dnd41	blood
12	chr14:56582600-56583800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:56582600-56584200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr14:56582600-56584200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr14:56582600-56584400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr14:56582600-56584400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr14:56582600-56584600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr14:56582800-56583600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:56582800-56583600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr14:56582800-56583600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr14:56582800-56583600	Enhancers	Lung	lung
22	chr14:56582800-56583600	Enhancers	Stomach Mucosa	stomach
23	chr14:56582800-56583800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:56582800-56584200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr14:56582800-56584200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr14:56582800-56584200	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr14:56582800-56584200	Enhancers	Fetal Lung	lung
28	chr14:56583000-56583800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr14:56583000-56584200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:56583000-56584200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr14:56583000-56584200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr14:56583000-56584200	Enhancers	Brain Hippocampus Middle	brain
33	chr14:56583000-56584800	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr14:56583200-56583600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr14:56583200-56583600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:56583200-56583600	Enhancers	Placenta	Placenta
37	chr14:56583200-56583600	Enhancers	Gastric	stomach
38	chr14:56583200-56583600	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr14:56583200-56583800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr14:56583200-56583800	Weak transcription	Brain Substantia Nigra	brain
41	chr14:56583200-56584000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr14:56583200-56584000	Enhancers	Primary B cells from peripheral blood	blood
43	chr14:56583200-56584000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:56583200-56584200	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr14:56583200-56584200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr14:56583200-56584200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:56583200-56584200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:56583200-56584200	Enhancers	Adipose Nuclei	Adipose
49	chr14:56583200-56584200	Enhancers	Brain Cingulate Gyrus	brain
50	chr14:56583200-56584200	Enhancers	Fetal Intestine Small	intestine

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