Variant report

Variant	rs8005470
Chromosome Location	chr14:35341527-35341528
allele	C/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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35285258..35287207-chr14:35339603..35342178,2	MCF-7	breast:
2	chr14:35339817..35342831-chr15:91306196..91309195,3	MCF-7	breast:
3	chr14:35341168..35344675-chr14:35590606..35593872,6	MCF-7	breast:
4	chr14:35341498..35344850-chr14:35591184..35593267,3	K562	blood:
5	chr14:35288901..35291358-chr14:35341201..35343506,2	MCF-7	breast:
6	chr14:35097894..35099748-chr14:35341381..35343942,2	K562	blood:
7	chr14:35331154..35334713-chr14:35340036..35344743,5	K562	blood:
8	chr14:35341203..35346354-chr14:35872500..35877183,6	MCF-7	breast:
9	chr14:35332142..35334655-chr14:35339932..35342885,2	MCF-7	breast:
10	chr14:35341151..35344721-chr14:35870913..35875092,3	K562	blood:
11	chr14:35341122..35342965-chr14:35463628..35465327,2	K562	blood:
12	chr14:35328294..35330963-chr14:35340568..35342148,2	MCF-7	breast:
13	chr14:35339842..35342583-chr14:35472313..35474482,2	K562	blood:
14	chr14:35341141..35345954-chr14:35450498..35453739,11	K562	blood:
15	chr14:35326748..35329780-chr14:35341273..35343392,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000092020	Chromatin interaction
ENSG00000129515	Chromatin interaction
ENSG00000258704	Chromatin interaction
ENSG00000100883	Chromatin interaction
ENSG00000258790	Chromatin interaction
ENSG00000198604	Chromatin interaction
ENSG00000100890	Chromatin interaction
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10136352	0.81[JPT][hapmap]
rs10150083	0.84[JPT][hapmap]
rs11847610	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1200414	0.82[JPT][hapmap]
rs12431818	0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12432567	0.86[ASN][1000 genomes]
rs12433706	0.96[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes]
rs12435778	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12435859	0.86[AFR][1000 genomes]
rs12586459	0.98[ASN][1000 genomes]
rs12586462	0.86[ASN][1000 genomes]
rs12587021	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12587251	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12587390	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12587913	1.00[ASN][1000 genomes]
rs12588318	0.83[ASN][1000 genomes]
rs12590112	0.90[JPT][hapmap]
rs12590268	0.96[ASN][1000 genomes]
rs1400745	0.90[JPT][hapmap]
rs17102726	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17102768	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17102795	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs17102829	0.90[JPT][hapmap]
rs17526787	0.96[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap]
rs17526884	0.92[YRI][hapmap];0.89[AFR][1000 genomes]
rs1959154	0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2295468	0.96[ASN][1000 genomes]
rs2383675	0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2383676	0.86[ASN][1000 genomes]
rs2383677	0.96[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap]
rs34072166	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34245772	0.96[ASN][1000 genomes]
rs3783315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783316	0.81[JPT][hapmap]
rs5016735	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55979964	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58268256	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs58587072	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs59092668	0.83[AFR][1000 genomes]
rs59678582	0.86[AFR][1000 genomes]
rs61981198	0.84[ASN][1000 genomes]
rs61981200	0.85[ASN][1000 genomes]
rs61981202	0.86[ASN][1000 genomes]
rs61981204	0.80[ASN][1000 genomes]
rs61981228	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs61981232	0.88[ASN][1000 genomes]
rs61981234	0.93[ASN][1000 genomes]
rs61981236	0.93[ASN][1000 genomes]
rs61981237	0.93[ASN][1000 genomes]
rs61988010	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61988011	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs61988012	0.95[ASN][1000 genomes]
rs61988013	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs61988044	1.00[ASN][1000 genomes]
rs61988045	0.98[ASN][1000 genomes]
rs7142012	1.00[ASN][1000 genomes]
rs7148400	0.81[JPT][hapmap]
rs7150069	0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7153289	0.82[CHB][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes]
rs7155348	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8005659	0.81[CHB][hapmap];0.82[YRI][hapmap]
rs8010504	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8010579	0.82[CHB][hapmap]
rs8013484	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS 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 miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1052162	chr14:35245349-35451187	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv1045939	chr14:35311074-35494703	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv456203	chr14:35311272-35512335	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
7	nsv564200	chr14:35311272-35512335	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35269400-35341600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr14:35276200-35342400	Weak transcription	Pancreas	Pancrea
3	chr14:35312800-35341600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:35312800-35341600	Weak transcription	Psoas Muscle	Psoas
5	chr14:35312800-35342200	Weak transcription	Small Intestine	intestine
6	chr14:35312800-35342400	Weak transcription	Left Ventricle	heart
7	chr14:35313600-35341600	Weak transcription	Brain Germinal Matrix	brain
8	chr14:35318400-35342200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:35321800-35342400	Weak transcription	Gastric	stomach
10	chr14:35322800-35342200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:35323200-35341800	Weak transcription	NHLF	lung
12	chr14:35323800-35342600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:35324600-35341600	Weak transcription	Fetal Lung	lung
14	chr14:35324600-35342200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:35324800-35342200	Weak transcription	Ovary	ovary
16	chr14:35327000-35341600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr14:35327000-35342400	Weak transcription	Esophagus	oesophagus
18	chr14:35327200-35342400	Weak transcription	Spleen	Spleen
19	chr14:35327800-35341600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:35329600-35342200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr14:35330000-35341600	Weak transcription	Fetal Intestine Small	intestine
22	chr14:35330000-35341600	Weak transcription	Fetal Stomach	stomach
23	chr14:35331200-35341600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:35331200-35341600	Weak transcription	Placenta	Placenta
25	chr14:35331200-35341800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr14:35331200-35341800	Weak transcription	Osteobl	bone
27	chr14:35331200-35342000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:35331200-35342200	Weak transcription	Fetal Brain Female	brain
29	chr14:35331400-35341600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr14:35331400-35342200	Weak transcription	A549	lung
31	chr14:35331600-35342200	Weak transcription	Liver	Liver
32	chr14:35335400-35341600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:35335600-35342400	Weak transcription	Lung	lung
34	chr14:35337000-35341600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:35337000-35342400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr14:35337800-35341600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr14:35338000-35342200	Weak transcription	Fetal Muscle Leg	muscle
38	chr14:35338400-35342200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr14:35338600-35342200	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr14:35339000-35342200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr14:35339400-35342200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr14:35339600-35341600	Genic enhancers	Dnd41	blood
43	chr14:35340000-35342000	Weak transcription	HSMM	muscle
44	chr14:35340400-35341600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:35340400-35341800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:35340400-35341800	Enhancers	Primary T cells fromperipheralblood	blood
47	chr14:35340400-35342200	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr14:35340600-35341800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr14:35340600-35342000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr14:35340600-35342200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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