Variant report

Variant	rs12431963
Chromosome Location	chr14:65759694-65759695
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65758925..65761020-chr14:65877259..65880093,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAX-8	chr14:65759383-65759816	NONHSAT037383

Variant related genes	Relation type
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10131385	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10132229	0.83[AMR][1000 genomes]
rs10132380	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10135194	0.89[CHB][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10142958	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10143243	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10147958	0.83[JPT][hapmap]
rs12433207	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12436113	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59233694	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9635250	0.83[JPT][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	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	nsv515522	chr14:65746566-65771110	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65753200-65760000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr14:65753200-65760200	Enhancers	Primary B cells from peripheral blood	blood
3	chr14:65753400-65759800	Enhancers	Primary hematopoietic stem cells	blood
4	chr14:65753600-65760000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:65754600-65759800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr14:65754600-65768600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:65754800-65764400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr14:65755000-65759800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr14:65755000-65760000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:65755200-65760000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr14:65755800-65760000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr14:65756000-65759800	Enhancers	Primary T cells from cord blood	blood
13	chr14:65756000-65760000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr14:65756600-65759800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr14:65757000-65760200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:65757600-65760000	Enhancers	Primary B cells from cord blood	blood
17	chr14:65758200-65759800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:65758600-65763000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:65758600-65763000	Weak transcription	NHDF-Ad	bronchial
20	chr14:65758800-65763600	Weak transcription	Pancreas	Pancrea
21	chr14:65758800-65764400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr14:65758800-65770000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:65758800-65773400	Weak transcription	Spleen	Spleen
24	chr14:65759000-65764600	Weak transcription	Colonic Mucosa	Colon
25	chr14:65759000-65766000	Weak transcription	Fetal Thymus	thymus
26	chr14:65759000-65766000	Weak transcription	Thymus	Thymus
27	chr14:65759200-65759800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:65759400-65763000	Weak transcription	GM12878-XiMat	blood
29	chr14:65759600-65761000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr14:65759600-65763600	Weak transcription	Stomach Mucosa	stomach

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