Variant report

Variant	rs12100967
Chromosome Location	chr14:81918394-81918395
allele	A/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:81865287..81867829-chr14:81917916..81919892,2	K562	blood:
2	chr14:81684227..81690291-chr14:81911956..81927827,27	MCF-7	breast:
3	chr14:81901759..81903510-chr14:81917785..81919796,2	MCF-7	breast:
4	chr14:81791324..81793435-chr14:81918105..81920642,2	MCF-7	breast:
5	chr14:81732900..81735880-chr14:81918109..81921076,5	MCF-7	breast:
6	chr14:81684333..81688496-chr14:81916691..81923354,12	MCF-7	breast:
7	chr14:81915638..81917709-chr14:81917915..81920043,2	MCF-7	breast:
8	chr14:81736225..81738545-chr14:81918216..81919957,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction
ENSG00000258675	Chromatin interaction
ENSG00000140022	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11159500	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12100504	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12100962	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12101219	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12185025	1.00[YRI][hapmap]
rs12434541	1.00[YRI][hapmap]
rs12435998	1.00[YRI][hapmap]
rs12586522	0.81[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs12586556	0.95[ASN][1000 genomes]
rs12586817	0.90[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs12589111	0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs12589155	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12589750	0.90[JPT][hapmap]
rs17111805	1.00[YRI][hapmap]
rs17111807	0.90[JPT][hapmap];1.00[YRI][hapmap]
rs17111815	0.82[JPT][hapmap]
rs17111817	0.90[JPT][hapmap];1.00[YRI][hapmap]
rs17111825	0.81[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs17111839	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs17111840	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs17111848	1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs17560087	1.00[YRI][hapmap]
rs1998386	1.00[YRI][hapmap]
rs2371601	0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs28409508	0.86[ASN][1000 genomes]
rs3853422	0.89[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs58975890	0.96[ASN][1000 genomes]
rs731389	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs731390	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81910000-81919000	Weak transcription	K562	blood
2	chr14:81916200-81919000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr14:81916200-81919200	Weak transcription	Liver	Liver
4	chr14:81916200-81921200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr14:81916600-81919000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:81916600-81919000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:81916600-81919200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:81916600-81919200	Weak transcription	Brain Anterior Caudate	brain
9	chr14:81916600-81919400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:81916600-81925800	Weak transcription	Spleen	Spleen
11	chr14:81916800-81918800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:81916800-81919000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:81916800-81919000	Weak transcription	Brain Substantia Nigra	brain
14	chr14:81916800-81919200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr14:81916800-81919200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:81916800-81919200	Weak transcription	Psoas Muscle	Psoas
17	chr14:81916800-81919400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:81916800-81919400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:81917000-81918800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:81917000-81918800	Weak transcription	HSMMtube	muscle
21	chr14:81917000-81919000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:81917000-81919000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:81917000-81919000	Weak transcription	Brain Hippocampus Middle	brain
24	chr14:81917000-81919000	Weak transcription	HSMM	muscle
25	chr14:81917000-81919000	Weak transcription	NHDF-Ad	bronchial
26	chr14:81917000-81919200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr14:81917000-81919200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr14:81917000-81919200	Weak transcription	Ovary	ovary
29	chr14:81917000-81919400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr14:81917000-81919400	Weak transcription	Fetal Stomach	stomach
31	chr14:81917000-81921000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:81917000-81931000	Weak transcription	Placenta	Placenta
33	chr14:81917200-81919400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr14:81917200-81919400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:81917200-81919400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr14:81917400-81919000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:81917400-81919000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:81917400-81919200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:81917600-81918600	Weak transcription	Fetal Muscle Leg	muscle
40	chr14:81917600-81920400	Weak transcription	Fetal Muscle Trunk	muscle

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