Variant report

Variant	rs72675245
Chromosome Location	chr14:35098000-35098001
allele	A/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35096806..35099646-chr14:35341739..35344917,3	MCF-7	breast:
2	chr14:35097214..35099771-chr14:35162198..35164288,2	MCF-7	breast:
3	chr14:35073851..35075932-chr14:35096822..35098644,2	MCF-7	breast:
4	chr14:35097716..35101474-chr14:35182604..35185285,4	MCF-7	breast:
5	chr14:35097894..35099748-chr14:35341381..35343942,2	K562	blood:
6	chr14:35022313..35024405-chr14:35095448..35098245,2	K562	blood:
7	chr14:35022750..35025769-chr14:35096151..35100054,3	MCF-7	breast:
8	chr14:35088009..35090239-chr14:35096440..35098532,2	K562	blood:
9	chr14:35096618..35098703-chr14:35872818..35874981,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258738	Chromatin interaction
ENSG00000198604	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000241582	Chromatin interaction
ENSG00000165410	Chromatin interaction
ENSG00000206588	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10131004	0.82[AFR][1000 genomes]
rs10136826	0.87[ASN][1000 genomes]
rs10151832	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10220690	0.90[ASN][1000 genomes]
rs10872887	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11156850	0.87[ASN][1000 genomes]
rs11620787	0.92[ASN][1000 genomes]
rs12432539	0.85[ASN][1000 genomes]
rs12717240	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12891984	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28537636	0.95[ASN][1000 genomes]
rs34612921	0.92[ASN][1000 genomes]
rs4258505	0.81[EUR][1000 genomes]
rs4598814	0.83[EUR][1000 genomes]
rs4612970	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4981244	0.93[ASN][1000 genomes]
rs55938117	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60370017	0.95[ASN][1000 genomes]
rs7144882	0.87[ASN][1000 genomes]
rs7146283	0.90[ASN][1000 genomes]
rs7151774	0.90[ASN][1000 genomes]
rs7158783	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72675226	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72675236	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7493420	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7493480	0.87[ASN][1000 genomes]
rs8018552	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs8018701	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8018918	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	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
4	nsv1040303	chr14:35040853-35101044	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv542027	chr14:35040853-35101044	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1038360	chr14:35040853-35152886	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv3408652	chr14:35069966-35110821	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv523334	chr14:35075022-35131862	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:197 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35054600-35098400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:35063000-35098400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:35068400-35098000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:35070400-35098600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:35076600-35098000	Weak transcription	HSMMtube	muscle
6	chr14:35077000-35098600	Weak transcription	Pancreas	Pancrea
7	chr14:35077600-35098000	Weak transcription	Aorta	Aorta
8	chr14:35077600-35098200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:35077600-35098600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:35078000-35098000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:35078000-35098000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr14:35078000-35098200	Weak transcription	Ovary	ovary
13	chr14:35078200-35098600	Weak transcription	Gastric	stomach
14	chr14:35085600-35098000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:35089600-35098000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:35091000-35098000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:35092000-35098000	Weak transcription	Fetal Thymus	thymus
18	chr14:35092400-35098000	Weak transcription	Fetal Kidney	kidney
19	chr14:35092800-35098000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr14:35092800-35098000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr14:35093000-35098000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:35093000-35098000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:35093000-35098000	Weak transcription	Liver	Liver
24	chr14:35093000-35098000	Weak transcription	Psoas Muscle	Psoas
25	chr14:35093200-35098000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr14:35093200-35098000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr14:35093200-35098000	Weak transcription	Fetal Brain Male	brain
28	chr14:35093200-35098000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr14:35093600-35098000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:35093600-35098000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:35093800-35098000	Weak transcription	Brain Angular Gyrus	brain
32	chr14:35093800-35098000	Weak transcription	HSMM	muscle
33	chr14:35093800-35098200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr14:35094200-35098000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr14:35094200-35098000	Weak transcription	Fetal Intestine Large	intestine
36	chr14:35094600-35098000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr14:35094600-35098000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr14:35095600-35098000	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr14:35096200-35098000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:35096400-35098000	Enhancers	Primary T cells fromperipheralblood	blood
41	chr14:35096800-35098000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr14:35096800-35098000	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr14:35096800-35098000	Enhancers	Left Ventricle	heart
44	chr14:35097000-35098000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:35097000-35098000	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr14:35097000-35098000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:35097000-35098400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr14:35097200-35098000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr14:35097200-35098000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr14:35097200-35098000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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