Variant report

Variant	rs2268986
Chromosome Location	chr14:69404636-69404637
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:
2	chr14:69404362..69404958-chr14:69468830..69469409,2	MCF-7	breast:
3	chr14:69375398..69378036-chr14:69403705..69406227,2	MCF-7	breast:
4	chr14:69404468..69406535-chr14:69406823..69410783,6	MCF-7	breast:
5	chr14:69403117..69416483-chr14:69441657..69449888,50	MCF-7	breast:
6	chr14:69378493..69379017-chr14:69404482..69405216,2	MCF-7	breast:
7	chr14:69404215..69405144-chr14:69468586..69469525,4	MCF-7	breast:
8	chr14:69403394..69405825-chr14:69407424..69410384,2	K562	blood:
9	chr14:69404437..69408069-chr14:69415844..69420142,4	MCF-7	breast:
10	chr14:69402918..69410408-chr14:69410942..69415819,17	MCF-7	breast:
11	chr14:69388864..69393027-chr14:69403394..69408215,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000072110	Chromatin interaction
ENSG00000259062	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1009145	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141794	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[ASN][1000 genomes]
rs12050161	0.84[JPT][hapmap]
rs12588423	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs181484	0.84[JPT][hapmap]
rs2268975	0.83[CHB][hapmap]
rs2268976	0.83[CHB][hapmap]
rs2268977	0.88[CHB][hapmap]
rs2268982	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2268983	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2268985	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2300876	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2300878	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28574858	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742897	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3784137	0.86[CEU][hapmap];0.83[CHB][hapmap]
rs3784140	0.88[CHB][hapmap]
rs4902672	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58747753	0.82[ASN][1000 genomes]
rs72733532	0.89[ASN][1000 genomes]
rs8010912	0.81[CHB][hapmap]

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	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
2	nsv564964	chr14:69392264-69423164	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv456333	chr14:69392445-69415962	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv564965	chr14:69392445-69415962	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69387400-69420400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr14:69387800-69405600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:69392800-69406200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:69393600-69406400	Weak transcription	Hela-S3	cervix
5	chr14:69393800-69405000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr14:69393800-69405800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:69394200-69422200	Weak transcription	Dnd41	blood
8	chr14:69395400-69405000	Weak transcription	Fetal Kidney	kidney
9	chr14:69396200-69408800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:69396400-69409000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:69397600-69406400	Genic enhancers	HMEC	breast
12	chr14:69397800-69404800	Genic enhancers	HSMM	muscle
13	chr14:69397800-69415200	Enhancers	Esophagus	oesophagus
14	chr14:69398400-69405200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:69399000-69423200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr14:69399400-69405600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:69399400-69407600	Genic enhancers	NHEK	skin
18	chr14:69399800-69404800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:69400000-69408400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:69400200-69416400	Enhancers	Pancreas	Pancrea
21	chr14:69400400-69417000	Enhancers	Fetal Muscle Leg	muscle
22	chr14:69400800-69420400	Enhancers	Fetal Lung	lung
23	chr14:69401000-69407200	Enhancers	Brain Anterior Caudate	brain
24	chr14:69401200-69406000	Genic enhancers	Osteobl	bone
25	chr14:69401200-69408400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr14:69401800-69412400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr14:69402000-69426200	Enhancers	Primary T cells fromperipheralblood	blood
28	chr14:69402200-69405800	Genic enhancers	Fetal Stomach	stomach
29	chr14:69402200-69425200	Enhancers	Right Atrium	heart
30	chr14:69402400-69404800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:69402400-69405000	Genic enhancers	Fetal Intestine Small	intestine
32	chr14:69402400-69405000	Enhancers	Stomach Mucosa	stomach
33	chr14:69402400-69405000	Enhancers	NH-A	brain
34	chr14:69402400-69405400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr14:69402400-69405400	Enhancers	Spleen	Spleen
36	chr14:69402400-69406200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:69402400-69406200	Genic enhancers	NHLF	lung
38	chr14:69402400-69406400	Enhancers	Aorta	Aorta
39	chr14:69402400-69406600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr14:69402400-69406800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr14:69402400-69407200	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr14:69402400-69407200	Enhancers	Ovary	ovary
43	chr14:69402400-69407400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr14:69402400-69407400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:69402400-69407600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr14:69402400-69407800	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr14:69402400-69409000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr14:69402400-69409800	Enhancers	Lung	lung
49	chr14:69402400-69414400	Enhancers	Adipose Nuclei	Adipose
50	chr14:69402400-69416400	Enhancers	Left Ventricle	heart

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