Variant report

Variant	rs989500
Chromosome Location	chr14:71361631-71361632
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71355468..71357237-chr14:71359840..71362416,2	MCF-7	breast:
2	chr14:71359184..71361695-chr14:71373251..71375700,2	MCF-7	breast:
3	chr14:71359505..71362289-chr14:71363900..71365887,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100731	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11847244	1.00[CEU][hapmap]
rs12433409	1.00[CEU][hapmap]
rs12435675	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12878013	0.82[AMR][1000 genomes]
rs12888201	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12891245	0.85[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17108711	1.00[CEU][hapmap]
rs17108730	1.00[CEU][hapmap]
rs17108873	1.00[CEU][hapmap]
rs17108897	1.00[CEU][hapmap]
rs2286312	1.00[CEU][hapmap]
rs2286314	1.00[CEU][hapmap]
rs2526891	1.00[CEU][hapmap]
rs35600810	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS 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 miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv1039769	chr14:71310954-71525720	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv542128	chr14:71310954-71525720	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1053303	chr14:71316325-71402971	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr14:71350600-71373000	Weak transcription	Spleen	Spleen
2	chr14:71351800-71365200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:71353200-71365200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:71354800-71363800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr14:71355000-71371600	Weak transcription	Placenta	Placenta
6	chr14:71356600-71363600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:71356600-71363800	Weak transcription	NHLF	lung
8	chr14:71356800-71363800	Weak transcription	HMEC	breast
9	chr14:71357400-71362200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr14:71357400-71362600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr14:71357800-71363800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:71358600-71362000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr14:71358600-71363800	Weak transcription	Right Atrium	heart
14	chr14:71358800-71363200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:71359000-71362200	Enhancers	Fetal Thymus	thymus
16	chr14:71359200-71362200	Enhancers	Primary T cells from cord blood	blood
17	chr14:71359200-71362200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr14:71359400-71362000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr14:71359400-71362200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr14:71359400-71362200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr14:71360000-71361800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr14:71360000-71362200	Enhancers	Primary T cells fromperipheralblood	blood
23	chr14:71360200-71362400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:71360800-71361800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr14:71360800-71362200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:71361000-71362000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr14:71361000-71362200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:71361000-71362200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:71361000-71362600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr14:71361000-71362800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr14:71361200-71361800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:71361200-71362000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:71361200-71363800	Weak transcription	Small Intestine	intestine
34	chr14:71361200-71366800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr14:71361400-71361800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:71361400-71361800	Enhancers	NHDF-Ad	bronchial
37	chr14:71361400-71362000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:71361400-71362000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:71361400-71362000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:71361400-71362000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:71361400-71362000	Enhancers	Rectal Smooth Muscle	rectum
42	chr14:71361400-71362000	Enhancers	Stomach Smooth Muscle	stomach
43	chr14:71361400-71362000	Enhancers	Osteobl	bone
44	chr14:71361400-71362400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:71361600-71361800	Flanking Active TSS	GM12878-XiMat	blood
46	chr14:71361600-71362000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:71361600-71362000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:71361600-71362000	Enhancers	NH-A	brain
49	chr14:71361600-71362800	Enhancers	HepG2	liver

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