Variant report

Variant	rs12893687
Chromosome Location	chr14:69824378-69824379
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:18)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69808456..69811857-chr14:69822855..69826097,4	MCF-7	breast:
2	chr14:69821172..69826934-chr14:69835934..69842143,9	MCF-7	breast:
3	chr14:69823108..69825691-chr14:69865001..69866828,2	MCF-7	breast:
4	chr14:69720076..69722559-chr14:69822737..69824435,2	MCF-7	breast:
5	chr14:69824235..69826782-chr14:69843380..69845607,3	MCF-7	breast:
6	chr14:69810681..69813205-chr14:69822055..69824419,2	K562	blood:
7	chr14:69810682..69812571-chr14:69823617..69825729,2	MCF-7	breast:
8	chr14:69822349..69827857-chr14:69829114..69832930,7	MCF-7	breast:
9	chr14:69726345..69728040-chr14:69823627..69825554,2	MCF-7	breast:
10	chr14:69822116..69824651-chr14:69862569..69864900,2	MCF-7	breast:
11	chr14:69791053..69792994-chr14:69824210..69827110,2	MCF-7	breast:
12	chr14:69823607..69825370-chr14:69868914..69871181,2	MCF-7	breast:
13	chr14:69713333..69716497-chr14:69822464..69825610,4	MCF-7	breast:
14	chr14:69785427..69787621-chr14:69822775..69825192,2	MCF-7	breast:
15	chr14:69824029..69825880-chr14:69851725..69853417,2	MCF-7	breast:
16	chr14:69818637..69821416-chr14:69822734..69824563,2	K562	blood:
17	chr14:69823834..69826023-chr14:69826399..69829100,3	MCF-7	breast:
18	chr14:69811705..69814388-chr14:69822919..69825901,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GALNTL1-1	chr14:69823727-69826025	NONHSAT037522

No data

Variant related genes	Relation type
ENSG00000029364	Chromatin interaction
ENSG00000100626	Chromatin interaction
ENSG00000258520	Chromatin interaction
ENSG00000100632	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1045301	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs11158804	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12050199	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12050204	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12232173	0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12589107	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs12589533	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs12589991	0.88[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12879303	0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12879627	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12880219	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12883441	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12884978	0.89[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12896978	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17106973	0.88[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17107058	1.00[CHB][hapmap]
rs34218656	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34230540	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34433939	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34516562	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34621266	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34625331	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34859711	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34862239	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs34864264	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34953569	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35515794	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35532206	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35657710	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35695471	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35724400	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35828634	0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs36027932	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36037391	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3784141	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61980352	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61980353	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61980354	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61982360	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61982397	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61982398	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61982401	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61982420	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61982422	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61982424	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67081339	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71423357	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7144886	0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7145781	0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72625682	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv456334	chr14:69793624-69831037	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv564966	chr14:69793624-69831037	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69815600-69838800	Weak transcription	Brain Germinal Matrix	brain
2	chr14:69818400-69827400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:69818600-69842800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:69821000-69838800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:69821000-69839600	Weak transcription	Fetal Brain Female	brain
6	chr14:69821200-69825400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:69821800-69827200	Weak transcription	Fetal Intestine Small	intestine
8	chr14:69821800-69852400	Weak transcription	Spleen	Spleen
9	chr14:69822000-69829600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:69822600-69825800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr14:69823000-69825200	Weak transcription	Brain Anterior Caudate	brain
12	chr14:69823000-69825400	Weak transcription	HSMM	muscle
13	chr14:69823000-69827000	Weak transcription	Primary B cells from cord blood	blood
14	chr14:69823000-69827000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr14:69823000-69829200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr14:69823200-69827400	Weak transcription	NHDF-Ad	bronchial
17	chr14:69823400-69824800	Enhancers	Placenta	Placenta
18	chr14:69823800-69825400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:69824000-69824600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:69824000-69824600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:69824200-69824400	Enhancers	Fetal Muscle Leg	muscle
22	chr14:69824200-69824800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:69824200-69826000	Enhancers	GM12878-XiMat	blood
24	chr14:69824200-69864000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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