Variant report

Variant	rs12323321
Chromosome Location	chr14:69515535-69515536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69511704..69514536-chr14:69514659..69516303,2	K562	blood:
2	chr14:69510523..69515043-chr14:69515218..69517910,6	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10129883	1.00[AMR][1000 genomes]
rs10134594	0.85[AMR][1000 genomes]
rs10134889	0.85[AMR][1000 genomes]
rs10143517	0.87[AMR][1000 genomes]
rs10145145	0.85[AMR][1000 genomes]
rs10146434	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10150736	1.00[AMR][1000 genomes]
rs10498526	0.85[AMR][1000 genomes]
rs28402899	0.85[AMR][1000 genomes]
rs28522776	0.85[AMR][1000 genomes]
rs28710350	0.85[AMR][1000 genomes]
rs57723249	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61160887	0.85[AMR][1000 genomes]
rs74059868	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74059870	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs908484	1.00[AMR][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	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69508800-69516600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:69508800-69518000	Enhancers	Fetal Muscle Leg	muscle
3	chr14:69509600-69515600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr14:69509600-69516400	Enhancers	HUVEC	blood vessel
5	chr14:69509800-69517400	Enhancers	Placenta	Placenta
6	chr14:69509800-69517800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr14:69509800-69519000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr14:69510400-69516200	Weak transcription	Primary T cells from cord blood	blood
9	chr14:69510400-69518800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:69510600-69516400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:69510600-69517800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr14:69510800-69518200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:69511000-69519200	Weak transcription	NHEK	skin
14	chr14:69511200-69516400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:69511400-69515600	Enhancers	Fetal Heart	heart
16	chr14:69511400-69516200	Enhancers	Adipose Nuclei	Adipose
17	chr14:69511400-69519000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr14:69512000-69517000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:69512000-69517000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr14:69512400-69519800	Weak transcription	Brain Germinal Matrix	brain
21	chr14:69512600-69516400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr14:69512600-69516600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:69512800-69516400	Weak transcription	Primary B cells from cord blood	blood
24	chr14:69513000-69515600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:69513000-69516400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:69513000-69516400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:69513000-69516800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:69513000-69517000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:69513000-69518800	Weak transcription	Fetal Brain Female	brain
30	chr14:69513000-69518800	Weak transcription	Pancreas	Pancrea
31	chr14:69513200-69516200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:69513200-69516200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr14:69513200-69516200	Weak transcription	HepG2	liver
34	chr14:69513200-69516600	Weak transcription	HMEC	breast
35	chr14:69513200-69516800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:69513200-69519200	Weak transcription	Thymus	Thymus
37	chr14:69513200-69521600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr14:69513400-69515600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:69513400-69516200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr14:69513400-69516200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr14:69513400-69516200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr14:69513400-69516200	Weak transcription	Brain Anterior Caudate	brain
43	chr14:69513400-69516400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr14:69513400-69516400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr14:69513400-69516400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr14:69513400-69516400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr14:69513400-69516400	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr14:69513400-69516600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr14:69513400-69516600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr14:69513400-69518600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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