Variant report

Variant	rs703838
Chromosome Location	chr12:57927515-57927516
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57926370..57929353-chr12:57930336..57932506,2	MCF-7	breast:
2	chr12:57881574..57884330-chr12:57925429..57927633,2	K562	blood:
3	chr12:57926877..57929356-chr12:57942157..57944626,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166986	Chromatin interaction
ENSG00000123329	Chromatin interaction
ENSG00000175203	Chromatin interaction
ENSG00000155980	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1148552	0.84[AFR][1000 genomes]
rs1148553	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1148554	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1148555	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1148557	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1284465	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1284605	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1299737	0.83[EUR][1000 genomes]
rs1629410	0.87[EUR][1000 genomes]
rs1669294	0.84[EUR][1000 genomes]
rs1669296	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1669297	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1678537	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1679368	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1709871	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1709874	0.82[EUR][1000 genomes]
rs2127318	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2620677	0.82[EUR][1000 genomes]
rs2620679	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2928382	0.82[EUR][1000 genomes]
rs2943696	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3782129	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3847699	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs474544	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs496245	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs697221	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs703835	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs703836	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs703837	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs703839	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7299631	0.98[EUR][1000 genomes]
rs747340	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs775236	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs775237	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs775241	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs775323	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs775324	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs776038	0.83[EUR][1000 genomes]
rs776039	0.83[EUR][1000 genomes]
rs7964074	0.97[EUR][1000 genomes]
rs796546	0.84[EUR][1000 genomes]
rs9737891	0.83[EUR][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	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
2	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS 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 miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv559033	chr12:57848639-57946477	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv559034	chr12:57859932-58012233	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
8	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
9	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
10	nsv1053930	chr12:57921188-57969659	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs703838	DCTN2	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57917600-57939600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:57918400-57929400	Strong transcription	Ovary	ovary
3	chr12:57918400-57929800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:57918600-57929000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:57918600-57929600	Strong transcription	Aorta	Aorta
6	chr12:57918600-57929600	Strong transcription	Rectal Smooth Muscle	rectum
7	chr12:57918600-57930400	Strong transcription	Lung	lung
8	chr12:57918600-57933600	Strong transcription	Brain Hippocampus Middle	brain
9	chr12:57918600-57934800	Strong transcription	Osteobl	bone
10	chr12:57918600-57936400	Strong transcription	Brain Inferior Temporal Lobe	brain
11	chr12:57918600-57939600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:57918800-57929000	Strong transcription	Small Intestine	intestine
13	chr12:57918800-57929400	Strong transcription	Gastric	stomach
14	chr12:57918800-57929600	Strong transcription	Brain Substantia Nigra	brain
15	chr12:57918800-57929600	Strong transcription	Placenta Amnion	Placenta Amnion
16	chr12:57918800-57929800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:57918800-57929800	Strong transcription	Fetal Lung	lung
18	chr12:57918800-57930600	Strong transcription	Primary T cells from cord blood	blood
19	chr12:57918800-57933800	Strong transcription	NHEK	skin
20	chr12:57919000-57928800	Strong transcription	Colonic Mucosa	Colon
21	chr12:57919000-57929400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:57919000-57929400	Strong transcription	Esophagus	oesophagus
23	chr12:57919000-57929600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr12:57919000-57929600	Strong transcription	Liver	Liver
25	chr12:57919000-57929600	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:57919000-57929800	Strong transcription	Spleen	Spleen
27	chr12:57919000-57930000	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr12:57919000-57930000	Strong transcription	NHLF	lung
29	chr12:57919000-57931200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:57919000-57932000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:57919000-57935600	Strong transcription	Thymus	Thymus
32	chr12:57919000-57937400	Weak transcription	Right Atrium	heart
33	chr12:57919200-57928800	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr12:57919200-57929000	Strong transcription	GM12878-XiMat	blood
35	chr12:57919200-57929800	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr12:57919200-57934800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:57919200-57939600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:57919400-57929000	Strong transcription	Brain Anterior Caudate	brain
39	chr12:57919400-57929200	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:57919400-57929400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr12:57919400-57929800	Strong transcription	Duodenum Mucosa	Duodenum
42	chr12:57919400-57930600	Strong transcription	HMEC	breast
43	chr12:57919400-57933400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:57919400-57933400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:57919400-57934400	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:57919400-57936200	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr12:57919400-57936200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:57919400-57936400	Strong transcription	Primary B cells from peripheral blood	blood
49	chr12:57919400-57936800	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr12:57919400-57937800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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