Variant report

Variant	rs9737891
Chromosome Location	chr12:57899106-57899107
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57882107..57884459-chr12:57897958..57899598,2	K562	blood:
2	chr12:57896559..57899422-chr12:57912129..57915670,4	MCF-7	breast:
3	chr12:57896366..57901111-chr12:57901647..57907518,8	K562	blood:
4	chr12:57889575..57891474-chr12:57898819..57900365,2	MCF-7	breast:
5	chr12:57889487..57901620-chr12:57907600..57919310,30	K562	blood:

Variant related genes	Relation type
ENSG00000264046	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000252865	Chromatin interaction
ENSG00000166986	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000123329	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1148553	0.82[EUR][1000 genomes]
rs1148554	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1148555	0.88[EUR][1000 genomes]
rs1148557	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1284465	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1284605	0.87[EUR][1000 genomes]
rs1284606	0.91[AMR][1000 genomes]
rs1299737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1617196	0.80[AMR][1000 genomes]
rs1629410	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1669294	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1669296	0.84[EUR][1000 genomes]
rs1669297	0.84[EUR][1000 genomes]
rs1678537	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1679368	0.85[ASN][1000 genomes]
rs1709871	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1709874	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2127318	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2620677	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2620679	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2672571	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2673326	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2928382	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2943696	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3782129	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3847699	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs472895	0.87[AMR][1000 genomes]
rs474544	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4760273	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs496245	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs508904	0.85[AMR][1000 genomes]
rs511752	0.91[AMR][1000 genomes]
rs541869	0.85[AMR][1000 genomes]
rs542278	0.82[AMR][1000 genomes]
rs569251	0.87[AMR][1000 genomes]
rs697221	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs703835	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs703836	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs703837	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs703838	0.83[EUR][1000 genomes]
rs703839	0.82[EUR][1000 genomes]
rs7299631	0.83[EUR][1000 genomes]
rs747340	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs775236	0.84[EUR][1000 genomes]
rs775237	0.84[EUR][1000 genomes]
rs775241	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs775323	0.84[EUR][1000 genomes]
rs775324	0.84[EUR][1000 genomes]
rs776038	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs776039	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7964074	0.81[EUR][1000 genomes]
rs796546	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7969683	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs899653	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899117	chr12:57811414-57926472	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	nsv469411	chr12:57844049-57921188	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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	89 gene(s)	inside rSNPs	diseases
8	nsv559032	chr12:57844049-57921188	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
9	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
10	nsv899119	chr12:57851182-57923451	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	nsv899120	chr12:57886609-57921188	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9737891	DCTN2	cis	Muscle Skeletal	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57882800-57905800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:57883000-57910600	Weak transcription	Right Atrium	heart
3	chr12:57883200-57900600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:57883200-57900600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr12:57883200-57900800	Strong transcription	Thymus	Thymus
6	chr12:57883200-57902400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:57883200-57911200	Strong transcription	Fetal Intestine Small	intestine
8	chr12:57883400-57900600	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr12:57883400-57900600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:57883400-57900600	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:57883400-57900600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:57883400-57900600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:57883400-57900600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:57883400-57900800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:57883400-57903000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:57883800-57899800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:57884000-57900600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:57884000-57900600	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr12:57884000-57902400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:57884000-57903200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:57884400-57900800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:57885600-57911200	Weak transcription	Fetal Heart	heart
23	chr12:57887200-57900600	Strong transcription	Dnd41	blood
24	chr12:57887800-57899600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:57887800-57900600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:57887800-57900600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:57888000-57900600	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:57888000-57900600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:57888000-57900600	Strong transcription	Fetal Muscle Leg	muscle
30	chr12:57888600-57912200	Strong transcription	Fetal Stomach	stomach
31	chr12:57888800-57900600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:57888800-57900600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr12:57888800-57900600	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:57889200-57900600	Strong transcription	Placenta	Placenta
35	chr12:57889400-57900600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr12:57889600-57900600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr12:57889600-57900600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:57889600-57900600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:57889800-57900600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:57889800-57900600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:57889800-57900600	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr12:57889800-57900600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:57889800-57900600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:57889800-57900600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr12:57889800-57900600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr12:57889800-57900600	Strong transcription	Fetal Thymus	thymus
47	chr12:57889800-57900600	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr12:57889800-57900600	Strong transcription	Stomach Smooth Muscle	stomach
49	chr12:57889800-57900600	Strong transcription	Osteobl	bone
50	chr12:57890000-57900600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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