Variant report

Variant	rs2208397
Chromosome Location	chr14:68753287-68753288
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68752714..68755212-chr14:69016133..69017803,2	MCF-7	breast:
2	chr14:68750225..68753988-chr14:68760767..68763895,3	K562	blood:
3	chr14:68752563..68754193-chr14:69258627..69260664,2	MCF-7	breast:
4	chr14:68745338..68754336-chr14:69258355..69264353,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10131490	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12889206	0.90[GIH][hapmap]
rs17105278	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1885013	0.98[EUR][1000 genomes]
rs1950897	0.96[EUR][1000 genomes]
rs1957570	0.95[CEU][hapmap];0.85[GIH][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs2104047	0.98[EUR][1000 genomes]
rs28498223	0.90[EUR][1000 genomes]
rs3784099	0.95[CEU][hapmap];0.88[GIH][hapmap];0.93[TSI][hapmap];0.98[EUR][1000 genomes]
rs6573834	0.90[GIH][hapmap]
rs7148416	0.95[CEU][hapmap];0.85[GIH][hapmap];0.86[TSI][hapmap];0.91[EUR][1000 genomes]
rs7148882	0.91[EUR][1000 genomes]
rs7150454	0.90[GIH][hapmap]
rs8008961	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8015139	0.91[EUR][1000 genomes]
rs911263	1.00[CEU][hapmap];0.88[GIH][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68745600-68753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:68746000-68758600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr14:68746600-68764600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:68747000-68754000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr14:68747000-68755200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr14:68747200-68755200	Enhancers	Primary B cells from peripheral blood	blood
7	chr14:68747400-68754000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:68748200-68753600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:68748400-68755400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:68749000-68753400	Enhancers	Primary hematopoietic stem cells	blood
11	chr14:68749000-68753400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:68749000-68754000	Enhancers	Fetal Thymus	thymus
13	chr14:68749200-68753800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr14:68749400-68753600	Enhancers	Dnd41	blood
15	chr14:68750200-68754000	Enhancers	Thymus	Thymus
16	chr14:68750200-68755400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr14:68750400-68755400	Enhancers	Primary B cells from cord blood	blood
18	chr14:68750400-68758400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr14:68750400-68761200	Weak transcription	Pancreas	Pancrea
20	chr14:68750600-68756200	Weak transcription	Small Intestine	intestine
21	chr14:68750600-68758000	Weak transcription	Lung	lung
22	chr14:68750600-68758400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:68750600-68758600	Weak transcription	Psoas Muscle	Psoas
24	chr14:68750600-68759600	Weak transcription	Brain Hippocampus Middle	brain
25	chr14:68750800-68755200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr14:68750800-68756600	Weak transcription	Fetal Intestine Small	intestine
27	chr14:68750800-68758200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:68750800-68761800	Weak transcription	Left Ventricle	heart
29	chr14:68751400-68758200	Weak transcription	HepG2	liver
30	chr14:68751600-68756600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:68751800-68758600	Weak transcription	Right Atrium	heart
32	chr14:68752000-68754200	Enhancers	HSMM	muscle
33	chr14:68752000-68756400	Weak transcription	Fetal Intestine Large	intestine
34	chr14:68752000-68757600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:68752200-68753600	Enhancers	HSMMtube	muscle
36	chr14:68752200-68754600	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr14:68752200-68755200	Enhancers	Primary T cells from cord blood	blood
38	chr14:68752200-68755400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:68752200-68759200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:68752400-68755400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr14:68752400-68758000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr14:68752400-68758200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr14:68752400-68758600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:68752400-68761600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:68752400-68765000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:68752400-68768800	Weak transcription	Aorta	Aorta
47	chr14:68752600-68753800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:68752600-68754400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr14:68752600-68755400	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr14:68752600-68755600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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