Variant report

Variant	rs8005252
Chromosome Location	chr14:35825436-35825437
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35761260..35763944-chr14:35824560..35827555,2	MCF-7	breast:
2	chr14:35806042..35806669-chr14:35825358..35825929,2	Hela-S3	cervix:
3	chr14:35823382..35826221-chr14:35830065..35831652,2	K562	blood:
4	chr14:35821200..35823074-chr14:35824484..35827644,3	MCF-7	breast:
5	chr14:35821242..35825606-chr14:35828536..35833513,6	K562	blood:

Variant related genes	Relation type
ENSG00000258860	Chromatin interaction
ENSG00000100902	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10129963	1.00[YRI][hapmap]
rs2295463	0.80[ASN][1000 genomes]
rs2899831	0.88[YRI][hapmap]
rs35706554	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35922526	0.99[EUR][1000 genomes]
rs4981273	1.00[YRI][hapmap]
rs55990853	0.94[ASN][1000 genomes]
rs6571708	0.81[YRI][hapmap]
rs7143346	0.88[YRI][hapmap]
rs7148066	0.94[ASN][1000 genomes]
rs7155561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7155714	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7156541	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664885	0.80[ASN][1000 genomes]
rs72664892	0.80[ASN][1000 genomes]
rs72666610	0.80[ASN][1000 genomes]
rs8005078	0.88[YRI][hapmap]
rs8008319	0.88[YRI][hapmap]
rs8012774	0.88[YRI][hapmap]
rs8015175	0.88[YRI][hapmap]
rs8019505	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
5	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
6	nsv456205	chr14:35772940-35826370	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv564318	chr14:35772940-35826370	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv1829386	chr14:35789740-35845927	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv518090	chr14:35802483-35840241	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv528501	chr14:35825436-35840678	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35817200-35834400	Weak transcription	Esophagus	oesophagus
2	chr14:35820800-35826600	Enhancers	Fetal Intestine Small	intestine
3	chr14:35820800-35826600	Enhancers	Placenta	Placenta
4	chr14:35821600-35843800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:35822200-35826000	Enhancers	Stomach Mucosa	stomach
6	chr14:35822200-35831600	Weak transcription	Colonic Mucosa	Colon
7	chr14:35822400-35825600	Weak transcription	Fetal Kidney	kidney
8	chr14:35822400-35827200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:35822400-35832000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:35822400-35832200	Weak transcription	Right Atrium	heart
11	chr14:35822400-35834400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:35822400-35834600	Weak transcription	Gastric	stomach
13	chr14:35822600-35831600	Weak transcription	Adipose Nuclei	Adipose
14	chr14:35822600-35836400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:35822800-35831600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr14:35823000-35831600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr14:35823400-35834200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr14:35823600-35826200	Enhancers	Liver	Liver
19	chr14:35823600-35831600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:35824600-35825600	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr14:35824600-35825800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr14:35824600-35825800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr14:35824600-35826200	Enhancers	Duodenum Mucosa	Duodenum
24	chr14:35824600-35826600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:35824600-35826600	Enhancers	Fetal Intestine Large	intestine
26	chr14:35824800-35826200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr14:35825000-35825600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:35825000-35826000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:35825000-35826200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr14:35825000-35826200	Enhancers	Fetal Lung	lung
31	chr14:35825000-35826200	Flanking Active TSS	HepG2	liver
32	chr14:35825200-35825600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr14:35825200-35825600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr14:35825200-35825600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr14:35825200-35825600	Enhancers	Aorta	Aorta
36	chr14:35825200-35825600	Enhancers	Fetal Thymus	thymus
37	chr14:35825200-35825600	Enhancers	Left Ventricle	heart
38	chr14:35825200-35825600	Enhancers	Lung	lung
39	chr14:35825200-35825600	Enhancers	Pancreas	Pancrea
40	chr14:35825200-35825600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr14:35825200-35825800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:35825200-35825800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:35825200-35825800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:35825200-35825800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:35825200-35825800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr14:35825200-35825800	Enhancers	HMEC	breast
47	chr14:35825200-35825800	Enhancers	HUVEC	blood vessel
48	chr14:35825200-35825800	Enhancers	NH-A	brain
49	chr14:35825200-35826000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:35825200-35826000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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