Variant report

Variant	rs60940685
Chromosome Location	chr14:35775630-35775631
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35773332..35776624-chr14:35804894..35807958,4	MCF-7	breast:
2	chr14:35774559..35776882-chr14:35872342..35875113,2	K562	blood:
3	chr14:35772430..35773960-chr14:35775066..35776587,2	MCF-7	breast:
4	chr14:35774042..35776362-chr14:35810358..35812429,2	MCF-7	breast:
5	chr14:35774532..35776059-chr14:35873613..35875501,2	K562	blood:
6	chr14:35774314..35776394-chr14:35872617..35874690,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10047949	0.96[ASN][1000 genomes]
rs10131625	0.96[ASN][1000 genomes]
rs10132920	0.96[ASN][1000 genomes]
rs10134308	0.96[ASN][1000 genomes]
rs10136978	0.96[ASN][1000 genomes]
rs10137019	0.96[ASN][1000 genomes]
rs10142846	0.96[ASN][1000 genomes]
rs10144472	0.82[AFR][1000 genomes]
rs10144857	0.96[ASN][1000 genomes]
rs10146133	0.88[ASN][1000 genomes]
rs10146691	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147645	0.92[ASN][1000 genomes]
rs10149823	0.89[ASN][1000 genomes]
rs1064248	0.96[ASN][1000 genomes]
rs11156874	0.88[ASN][1000 genomes]
rs11844031	0.92[ASN][1000 genomes]
rs11845183	0.92[ASN][1000 genomes]
rs11845364	0.96[ASN][1000 genomes]
rs11848309	0.88[ASN][1000 genomes]
rs11849461	0.92[ASN][1000 genomes]
rs11851820	0.92[ASN][1000 genomes]
rs11852178	0.92[ASN][1000 genomes]
rs12100582	0.96[ASN][1000 genomes]
rs12100841	0.81[ASN][1000 genomes]
rs12100944	0.81[ASN][1000 genomes]
rs12100980	0.96[ASN][1000 genomes]
rs12436351	0.92[ASN][1000 genomes]
rs17091807	0.88[ASN][1000 genomes]
rs17103044	0.81[ASN][1000 genomes]
rs17103047	0.81[ASN][1000 genomes]
rs17103111	0.96[ASN][1000 genomes]
rs17103147	0.96[ASN][1000 genomes]
rs17103166	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17386684	0.88[ASN][1000 genomes]
rs17456067	0.88[ASN][1000 genomes]
rs1807162	0.88[ASN][1000 genomes]
rs1884715	0.93[ASN][1000 genomes]
rs2143949	0.81[ASN][1000 genomes]
rs2145622	0.92[ASN][1000 genomes]
rs2277459	0.96[ASN][1000 genomes]
rs2277461	0.96[ASN][1000 genomes]
rs2415278	0.96[ASN][1000 genomes]
rs2415284	0.96[ASN][1000 genomes]
rs28470932	0.96[ASN][1000 genomes]
rs28504476	0.93[ASN][1000 genomes]
rs28505171	0.90[ASN][1000 genomes]
rs28595436	0.96[ASN][1000 genomes]
rs28665705	0.96[ASN][1000 genomes]
rs28708376	0.96[ASN][1000 genomes]
rs28736779	0.96[ASN][1000 genomes]
rs2899832	0.96[ASN][1000 genomes]
rs34509212	0.88[ASN][1000 genomes]
rs4494460	0.88[ASN][1000 genomes]
rs55907319	0.96[ASN][1000 genomes]
rs58064181	0.92[ASN][1000 genomes]
rs61060564	0.81[ASN][1000 genomes]
rs61492899	0.81[ASN][1000 genomes]
rs62625039	0.88[ASN][1000 genomes]
rs6571694	0.88[ASN][1000 genomes]
rs6571695	0.88[ASN][1000 genomes]
rs6571709	0.96[ASN][1000 genomes]
rs7148424	0.96[ASN][1000 genomes]
rs7149602	0.96[ASN][1000 genomes]
rs7153807	0.96[ASN][1000 genomes]
rs7154637	0.96[ASN][1000 genomes]
rs7155335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7155697	0.81[ASN][1000 genomes]
rs7218	0.96[ASN][1000 genomes]
rs72664814	0.81[ASN][1000 genomes]
rs72664816	0.81[ASN][1000 genomes]
rs72664819	0.81[ASN][1000 genomes]
rs72664829	0.81[ASN][1000 genomes]
rs72664840	0.88[ASN][1000 genomes]
rs72664843	0.88[ASN][1000 genomes]
rs72664849	0.81[ASN][1000 genomes]
rs72664854	0.88[ASN][1000 genomes]
rs72664855	0.88[ASN][1000 genomes]
rs73239026	0.93[ASN][1000 genomes]
rs73239030	0.93[ASN][1000 genomes]
rs73239072	0.96[ASN][1000 genomes]
rs73239074	0.96[ASN][1000 genomes]
rs73240720	0.92[ASN][1000 genomes]
rs73240721	0.92[ASN][1000 genomes]
rs74043875	0.92[ASN][1000 genomes]
rs743226	0.96[ASN][1000 genomes]
rs743227	0.96[ASN][1000 genomes]
rs7493705	0.96[ASN][1000 genomes]
rs8004236	0.96[ASN][1000 genomes]
rs8005261	0.92[ASN][1000 genomes]
rs8007822	0.96[ASN][1000 genomes]
rs8009666	0.96[ASN][1000 genomes]
rs8010905	0.96[ASN][1000 genomes]
rs8011195	0.88[ASN][1000 genomes]
rs8014760	0.81[ASN][1000 genomes]
rs8016140	0.96[ASN][1000 genomes]
rs8016541	0.81[ASN][1000 genomes]
rs8017547	0.81[ASN][1000 genomes]
rs8018116	0.81[ASN][1000 genomes]
rs8019482	0.88[ASN][1000 genomes]
rs8019523	0.88[ASN][1000 genomes]
rs8019700	0.88[ASN][1000 genomes]
rs8019709	0.88[ASN][1000 genomes]
rs876996	0.96[ASN][1000 genomes]
rs9646144	0.96[ASN][1000 genomes]
rs9888560	0.81[ASN][1000 genomes]
rs9888561	0.81[ASN][1000 genomes]
rs9888597	0.81[ASN][1000 genomes]

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	nsv1038396	chr14:35714499-35788189	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1045288	chr14:35735886-35788189	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1043840	chr14:35739319-35791879	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	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
10	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35762600-35778400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:35762800-35778600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:35762800-35778800	Weak transcription	Aorta	Aorta
4	chr14:35763200-35777000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr14:35763200-35778000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:35763200-35780000	Weak transcription	Fetal Kidney	kidney
7	chr14:35763200-35789600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:35763600-35776800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr14:35763600-35777000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr14:35763600-35778800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:35763800-35777200	Weak transcription	Placenta	Placenta
12	chr14:35763800-35777600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:35763800-35777800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr14:35763800-35777800	Weak transcription	HSMM	muscle
15	chr14:35763800-35778600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr14:35763800-35778600	Weak transcription	Colonic Mucosa	Colon
17	chr14:35763800-35778600	Weak transcription	Esophagus	oesophagus
18	chr14:35763800-35778600	Weak transcription	Ovary	ovary
19	chr14:35763800-35779200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:35764000-35778200	Weak transcription	Brain Hippocampus Middle	brain
21	chr14:35764000-35778600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:35764000-35779200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:35764200-35777000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr14:35764200-35777200	Weak transcription	Osteobl	bone
25	chr14:35764200-35778200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr14:35764400-35777800	Weak transcription	NHLF	lung
27	chr14:35764600-35778600	Weak transcription	Brain Anterior Caudate	brain
28	chr14:35764600-35778600	Weak transcription	Brain Germinal Matrix	brain
29	chr14:35765200-35778600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:35765200-35778800	Weak transcription	Brain Angular Gyrus	brain
31	chr14:35765200-35779800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr14:35765400-35777000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:35765400-35778400	Weak transcription	Fetal Brain Female	brain
34	chr14:35765400-35778800	Weak transcription	Gastric	stomach
35	chr14:35765400-35779400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:35765400-35782400	Weak transcription	K562	blood
37	chr14:35765600-35776800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:35765800-35778600	Weak transcription	Lung	lung
39	chr14:35766200-35792000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr14:35766400-35777400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr14:35766400-35777600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:35767200-35779600	Weak transcription	Brain Substantia Nigra	brain
43	chr14:35769200-35778200	Weak transcription	NH-A	brain
44	chr14:35769200-35780600	Weak transcription	NHDF-Ad	bronchial
45	chr14:35769200-35800800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:35769400-35777600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:35769400-35778600	Weak transcription	HMEC	breast
48	chr14:35769600-35777200	Weak transcription	HUVEC	blood vessel
49	chr14:35769600-35777400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:35769600-35777800	Weak transcription	Rectal Mucosa Donor 31	rectum

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