Variant report

Variant	rs12878037
Chromosome Location	chr14:64336630-64336631
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64318570..64321307-chr14:64334480..64337114,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054654	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11158520	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11850711	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12588807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12588955	0.86[ASN][1000 genomes]
rs12589453	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12878348	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879374	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12881942	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12882429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12888489	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12888712	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12891546	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12894963	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17751301	1.00[CEU][hapmap]
rs17824268	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs33976862	1.00[CEU][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34328391	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34451919	0.86[ASN][1000 genomes]
rs34556545	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34561759	1.00[ASN][1000 genomes]
rs35009554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35033077	0.83[ASN][1000 genomes]
rs35168922	1.00[ASN][1000 genomes]
rs35302448	1.00[ASN][1000 genomes]
rs35581544	0.85[AMR][1000 genomes]
rs35984502	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3818774	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4459477	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4899120	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4902250	1.00[ASN][1000 genomes]
rs6573539	0.92[EUR][1000 genomes]
rs66684280	1.00[ASN][1000 genomes]
rs67289344	1.00[ASN][1000 genomes]
rs71416319	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144308	0.86[ASN][1000 genomes]
rs7401191	1.00[ASN][1000 genomes]
rs8015210	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs8023195	1.00[CHB][hapmap];1.00[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	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037140	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv542119	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64321200-64340600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:64321400-64350200	Weak transcription	Fetal Stomach	stomach
3	chr14:64322800-64340400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:64322800-64340600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:64323200-64340200	Weak transcription	Left Ventricle	heart
6	chr14:64323200-64340400	Weak transcription	Spleen	Spleen
7	chr14:64324600-64341400	Weak transcription	HSMM	muscle
8	chr14:64327200-64340600	Weak transcription	Right Ventricle	heart
9	chr14:64327400-64355200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:64327600-64360000	Weak transcription	Gastric	stomach
11	chr14:64327800-64342200	Weak transcription	Esophagus	oesophagus
12	chr14:64330200-64343600	Weak transcription	Brain Germinal Matrix	brain
13	chr14:64330600-64338200	Enhancers	Primary B cells from peripheral blood	blood
14	chr14:64331200-64356400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:64331400-64339800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr14:64331400-64340400	Weak transcription	Fetal Heart	heart
17	chr14:64331400-64340800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr14:64331400-64342200	Weak transcription	NHLF	lung
19	chr14:64331600-64336800	Weak transcription	Osteobl	bone
20	chr14:64331600-64340400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:64331600-64340400	Weak transcription	Right Atrium	heart
22	chr14:64331600-64340800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr14:64331600-64341000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr14:64331600-64341800	Weak transcription	NHDF-Ad	bronchial
25	chr14:64331800-64341400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr14:64332400-64338000	Enhancers	Primary B cells from cord blood	blood
27	chr14:64332600-64337200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr14:64333000-64341000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:64333200-64340400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr14:64333200-64340400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:64333400-64340400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr14:64333400-64340600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr14:64334400-64337000	Enhancers	Fetal Intestine Small	intestine
34	chr14:64334400-64337000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr14:64334400-64337200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:64334600-64337000	Enhancers	Small Intestine	intestine
37	chr14:64335000-64337000	Enhancers	Liver	Liver
38	chr14:64335200-64340400	Weak transcription	Lung	lung
39	chr14:64335200-64340400	Weak transcription	Ovary	ovary
40	chr14:64335200-64341800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr14:64335200-64342200	Weak transcription	Placenta	Placenta
42	chr14:64335200-64342200	Weak transcription	Pancreas	Pancrea
43	chr14:64335200-64360000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:64335400-64340800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr14:64335600-64336800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:64335600-64336800	Enhancers	Psoas Muscle	Psoas
47	chr14:64335600-64340400	Weak transcription	Fetal Kidney	kidney
48	chr14:64335600-64340600	Weak transcription	Fetal Lung	lung
49	chr14:64335800-64336800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:64335800-64337000	Enhancers	Duodenum Mucosa	Duodenum

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