Variant report

Variant	rs72685297
Chromosome Location	chr14:78185343-78185344
allele	A/C
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	chr14:78179028..78181714-chr14:78184797..78186792,2	MCF-7	breast:
2	chr14:78175468..78177386-chr14:78185272..78187953,2	K562	blood:
3	chr14:78184972..78186869-chr14:78188140..78189819,2	K562	blood:
4	chr14:78080102..78083060-chr14:78184904..78187965,3	K562	blood:
5	chr14:78184014..78186184-chr14:78195101..78197767,2	K562	blood:
6	chr14:78184404..78186083-chr14:78202310..78205252,2	K562	blood:
7	chr14:78174297..78175881-chr14:78184651..78186993,2	MCF-7	breast:
8	chr14:78172939..78174965-chr14:78183538..78186146,2	K562	blood:
9	chr14:78174456..78177429-chr14:78185272..78189156,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000119705	Chromatin interaction
ENSG00000100603	Chromatin interaction
ENSG00000100601	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs11621162	0.81[AFR][1000 genomes]
rs11621593	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622293	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11622411	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11622449	0.92[AFR][1000 genomes]
rs11623898	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11624052	0.81[AFR][1000 genomes]
rs11624063	0.92[AFR][1000 genomes]
rs11625029	0.92[AFR][1000 genomes]
rs11625607	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11625647	0.92[AFR][1000 genomes]
rs11626900	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11628795	0.92[AFR][1000 genomes]
rs11850235	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17752726	0.92[AFR][1000 genomes]
rs17825434	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17825458	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17825620	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1985149	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2003594	1.00[ASN][1000 genomes]
rs2111829	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2112135	0.92[AFR][1000 genomes]
rs28393221	0.92[ASN][1000 genomes]
rs45444693	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs45465691	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs55922310	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs55995783	0.81[AMR][1000 genomes]
rs56003103	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs56060413	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs56339806	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6494	0.81[AFR][1000 genomes]
rs7140838	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7148685	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7151836	1.00[ASN][1000 genomes]
rs7155062	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72685236	1.00[ASN][1000 genomes]
rs72685238	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685244	0.81[AFR][1000 genomes]
rs72685246	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685260	0.81[AFR][1000 genomes]
rs72685267	1.00[ASN][1000 genomes]
rs72685273	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72685280	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72685281	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72685293	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72685296	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72685300	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72685302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687205	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72687216	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72687217	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72687218	0.92[AFR][1000 genomes]
rs72687223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687228	0.92[AFR][1000 genomes]
rs72687229	0.92[AFR][1000 genomes]
rs72687241	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72687246	0.92[AFR][1000 genomes]
rs72687247	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687250	0.92[AFR][1000 genomes]
rs72687251	0.92[AFR][1000 genomes]
rs72687256	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72687261	0.92[AFR][1000 genomes]
rs72688829	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688836	0.92[ASN][1000 genomes]
rs7492501	1.00[ASN][1000 genomes]
rs8015313	0.92[AFR][1000 genomes]
rs8015796	1.00[ASN][1000 genomes]
rs8015938	0.86[AFR][1000 genomes];1.00[ASN][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	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv34940	chr14:78104897-78222798	Strong transcription Weak 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv521287	chr14:78108003-78211225	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv520021	chr14:78152921-78208294	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78176200-78185400	Weak transcription	Fetal Heart	heart
2	chr14:78176200-78206000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr14:78176200-78208400	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr14:78176200-78224000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr14:78176200-78225400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:78176400-78206200	Strong transcription	Fetal Thymus	thymus
7	chr14:78176400-78223400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr14:78176400-78224200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr14:78176600-78187200	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr14:78176600-78187200	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr14:78176600-78197400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:78176600-78204600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr14:78176600-78205200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr14:78176600-78205400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:78176600-78205600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr14:78176600-78205600	Strong transcription	Adipose Nuclei	Adipose
17	chr14:78176600-78205800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr14:78176600-78213200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr14:78176600-78223200	Strong transcription	Fetal Muscle Leg	muscle
20	chr14:78176600-78224200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:78176800-78190200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:78176800-78191400	Weak transcription	Fetal Brain Male	brain
23	chr14:78176800-78192800	Strong transcription	Osteobl	bone
24	chr14:78176800-78205200	Strong transcription	Stomach Smooth Muscle	stomach
25	chr14:78176800-78205600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:78176800-78205600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:78176800-78205600	Strong transcription	Placenta	Placenta
28	chr14:78176800-78205800	Strong transcription	Fetal Muscle Trunk	muscle
29	chr14:78176800-78206200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr14:78176800-78207400	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr14:78176800-78208200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:78176800-78210800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:78176800-78221800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr14:78176800-78222200	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr14:78177000-78187200	Strong transcription	Thymus	Thymus
36	chr14:78177000-78189200	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr14:78177000-78194800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:78177000-78204600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:78177000-78204600	Strong transcription	Duodenum Mucosa	Duodenum
40	chr14:78177000-78205000	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:78177000-78205000	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr14:78177000-78205200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr14:78177000-78205600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:78177000-78205600	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr14:78177000-78205800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:78177000-78206400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr14:78177000-78206400	Strong transcription	Fetal Intestine Large	intestine
48	chr14:78177000-78211000	Weak transcription	Stomach Mucosa	stomach
49	chr14:78177000-78222600	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:78177000-78224200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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