Variant report

Variant	rs8010312
Chromosome Location	chr14:64382964-64382965
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64319705..64321623-chr14:64382416..64385265,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054654	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11158515	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs11158518	0.80[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs11626911	0.81[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs11628650	0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs12161903	0.83[ASN][1000 genomes]
rs12431956	0.80[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs12432760	0.83[ASN][1000 genomes]
rs12435958	0.82[CHB][hapmap]
rs1255895	0.89[CEU][hapmap]
rs1255911	0.85[CEU][hapmap]
rs12586461	0.87[ASN][1000 genomes]
rs12590842	0.85[ASN][1000 genomes]
rs17750888	0.88[ASN][1000 genomes]
rs17750906	0.91[ASN][1000 genomes]
rs1958413	0.81[JPT][hapmap]
rs2357001	0.82[CHB][hapmap]
rs4027383	0.85[CEU][hapmap]
rs4027384	0.84[CEU][hapmap]
rs4899121	0.84[ASN][1000 genomes]
rs4902253	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs56376318	0.86[ASN][1000 genomes]
rs60305436	0.85[ASN][1000 genomes]
rs61984086	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61985748	0.80[ASN][1000 genomes]
rs6573535	0.83[CHB][hapmap]
rs66460676	0.83[ASN][1000 genomes]
rs66764453	0.83[ASN][1000 genomes]
rs67011590	0.87[ASN][1000 genomes]
rs67106029	0.80[ASN][1000 genomes]
rs67975797	0.85[ASN][1000 genomes]
rs7140278	0.87[ASN][1000 genomes]
rs7143794	0.87[ASN][1000 genomes]
rs7145302	0.81[CHB][hapmap]
rs7145736	0.80[ASN][1000 genomes]
rs7146469	0.80[ASN][1000 genomes]
rs7149405	0.87[ASN][1000 genomes]
rs7159878	0.84[CEU][hapmap]
rs73276854	0.83[ASN][1000 genomes]
rs8010385	0.90[ASN][1000 genomes]
rs8013611	0.87[CHB][hapmap];0.83[ASN][1000 genomes]
rs8016321	0.85[ASN][1000 genomes]
rs8017009	0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs951249	0.85[ASN][1000 genomes]
rs951250	0.83[CHB][hapmap]
rs998242	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv564904	chr14:64346190-64416898	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv1793389	chr14:64346190-64457224	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64337800-64403800	Weak transcription	Thymus	Thymus
2	chr14:64364400-64385200	Weak transcription	Pancreas	Pancrea
3	chr14:64364600-64387800	Weak transcription	HMEC	breast
4	chr14:64365000-64430200	Weak transcription	Fetal Brain Male	brain
5	chr14:64365200-64386200	Weak transcription	Gastric	stomach
6	chr14:64365400-64393600	Weak transcription	Right Ventricle	heart
7	chr14:64369800-64386200	Weak transcription	Esophagus	oesophagus
8	chr14:64374600-64399600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:64375200-64385000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr14:64375200-64395000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:64375200-64395200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:64375800-64384000	Weak transcription	Fetal Intestine Large	intestine
13	chr14:64375800-64384800	Weak transcription	Fetal Kidney	kidney
14	chr14:64375800-64386200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr14:64375800-64388600	Weak transcription	Hela-S3	cervix
16	chr14:64375800-64389000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr14:64375800-64393200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:64376000-64383400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr14:64376000-64385400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:64376000-64386200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:64376000-64386200	Weak transcription	Left Ventricle	heart
22	chr14:64376000-64389000	Weak transcription	Adipose Nuclei	Adipose
23	chr14:64376000-64389600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr14:64376000-64389600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr14:64376000-64389600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr14:64376000-64391200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr14:64376000-64399200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:64376000-64399600	Weak transcription	Small Intestine	intestine
29	chr14:64376000-64399800	Weak transcription	Primary T cells from cord blood	blood
30	chr14:64376000-64416200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr14:64376200-64399400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr14:64376400-64394000	Weak transcription	Lung	lung
33	chr14:64377600-64386200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:64377600-64388000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr14:64377600-64389400	Weak transcription	Fetal Intestine Small	intestine
36	chr14:64378000-64383600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:64378000-64384600	Weak transcription	Stomach Mucosa	stomach
38	chr14:64378000-64385200	Weak transcription	Ovary	ovary
39	chr14:64378000-64386000	Weak transcription	Fetal Stomach	stomach
40	chr14:64378000-64386200	Weak transcription	Fetal Muscle Leg	muscle
41	chr14:64378000-64389400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr14:64378000-64394800	Weak transcription	Fetal Heart	heart
43	chr14:64378000-64404800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:64378000-64416200	Weak transcription	Fetal Lung	lung
45	chr14:64378200-64385800	Weak transcription	Aorta	Aorta
46	chr14:64378200-64389200	Weak transcription	Brain Germinal Matrix	brain
47	chr14:64378400-64383200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr14:64378400-64416000	Weak transcription	Primary B cells from cord blood	blood
49	chr14:64378600-64383200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:64378600-64389400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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