Variant report

Variant	rs7313483
Chromosome Location	chr12:123726834-123726835
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123721738..123724481-chr12:123725404..123728310,3	K562	blood:
2	chr12:123722318..123723838-chr12:123725541..123727819,2	MCF-7	breast:
3	chr12:123459319..123461474-chr12:123725544..123727402,2	MCF-7	breast:
4	chr12:123715079..123721002-chr12:123721919..123730378,16	K562	blood:

Variant related genes	Relation type
ENSG00000051825	Chromatin interaction
ENSG00000256028	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000111325	Chromatin interaction
ENSG00000130921	Chromatin interaction

Extended variants
information (count: 164 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:160)

rs_ID	r²[population]
rs1047158	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1051431	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1060105	0.84[CEU][hapmap]
rs10732573	0.90[CEU][hapmap]
rs10744149	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10744151	0.81[EUR][1000 genomes]
rs10772995	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10772996	0.81[AMR][1000 genomes]
rs10772997	0.80[EUR][1000 genomes]
rs10772998	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10772999	0.81[EUR][1000 genomes]
rs10773001	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10773002	0.85[CEU][hapmap]
rs10846478	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10846486	0.94[CEU][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10846487	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10846491	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11057192	0.89[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11057202	0.81[EUR][1000 genomes]
rs11057204	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11057205	0.81[EUR][1000 genomes]
rs11057206	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11057207	0.81[EUR][1000 genomes]
rs11057210	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1106240	0.94[CEU][hapmap]
rs1106241	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs12298826	0.89[CEU][hapmap]
rs12304248	0.84[CEU][hapmap]
rs12316131	0.89[CEU][hapmap]
rs12322888	0.89[CEU][hapmap]
rs1260294	0.89[CEU][hapmap]
rs12817892	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs12818067	0.95[EUR][1000 genomes]
rs12824957	0.83[EUR][1000 genomes]
rs12829456	0.95[EUR][1000 genomes]
rs1402274	0.94[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1402275	0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1533703	1.00[CEU][hapmap];0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1568427	0.81[CEU][hapmap]
rs1569068	0.94[CEU][hapmap];0.80[EUR][1000 genomes]
rs1609520	0.90[CEU][hapmap]
rs1615350	0.89[CEU][hapmap]
rs1615694	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1616131	0.80[EUR][1000 genomes]
rs1616181	0.80[EUR][1000 genomes]
rs1617156	0.89[CEU][hapmap]
rs1617434	0.81[EUR][1000 genomes]
rs1621194	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1626899	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1627724	0.81[EUR][1000 genomes]
rs1630693	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1630905	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1716156	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1716157	0.94[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1716158	0.81[AMR][1000 genomes]
rs1716159	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1716160	0.94[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1716164	0.94[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1716165	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1716167	0.94[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1716168	0.94[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1716170	0.94[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1716171	0.94[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1716172	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1716173	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1716175	0.94[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1716176	0.94[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1716177	0.94[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1716182	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1727290	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1727294	0.94[CEU][hapmap];0.80[EUR][1000 genomes]
rs1727296	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1727300	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1727302	0.89[CEU][hapmap]
rs1727306	0.94[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1727309	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs1727310	0.82[EUR][1000 genomes]
rs1727313	0.94[CEU][hapmap]
rs1727314	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1727315	0.94[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs1727316	0.80[EUR][1000 genomes]
rs1727318	0.80[EUR][1000 genomes]
rs1727320	0.94[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1727322	0.81[EUR][1000 genomes]
rs1727323	0.94[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1727324	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs1727325	0.94[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1727331	0.90[CEU][hapmap]
rs1727332	0.81[EUR][1000 genomes]
rs1727334	0.87[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1790086	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1790087	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1790089	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1790090	0.81[EUR][1000 genomes]
rs1790095	0.94[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1790098	0.94[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1790099	1.00[YRI][hapmap]
rs1790100	0.94[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1790101	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1790102	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1790108	0.94[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs1790109	0.81[EUR][1000 genomes]
rs1790116	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs1790123	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs1790124	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1790125	0.83[AMR][1000 genomes]
rs1790130	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1790131	0.94[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1879380	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs1969354	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1980252	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2049114	0.94[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2337934	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2682429	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2682430	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2682431	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2682433	0.85[EUR][1000 genomes]
rs2682434	0.94[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2695476	0.85[EUR][1000 genomes]
rs2695478	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs2695479	0.82[EUR][1000 genomes]
rs2695480	0.84[EUR][1000 genomes]
rs2695481	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2695482	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs28406193	0.83[CEU][hapmap]
rs28458312	0.89[CEU][hapmap]
rs28472704	0.83[CEU][hapmap]
rs2851435	0.87[EUR][1000 genomes]
rs2851436	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2851438	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2851447	0.88[CEU][hapmap]
rs2851450	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2851451	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28636834	0.83[CEU][hapmap]
rs2947099	0.83[EUR][1000 genomes]
rs2950537	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3018098	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34341465	0.95[EUR][1000 genomes]
rs4268544	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4372492	0.94[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4460848	0.89[CEU][hapmap]
rs4759371	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4759409	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4759415	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4759416	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4759417	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58809476	0.95[EUR][1000 genomes]
rs655293	0.89[CEU][hapmap]
rs6633	0.85[EUR][1000 genomes]
rs7132277	0.84[CEU][hapmap]
rs7137286	0.81[EUR][1000 genomes]
rs7299943	0.84[CEU][hapmap]
rs7304782	0.90[CEU][hapmap]
rs7953929	0.94[CEU][hapmap]
rs7980687	0.84[CEU][hapmap]
rs884548	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs941305	0.94[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs941306	0.94[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs949142	0.81[EUR][1000 genomes]
rs9795522	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS 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 target site	70 gene(s)	inside rSNPs	diseases
3	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7313483	LOC283378	Cis_1M	lymphoblastoid	RTeQTL
rs7313483	SBNO1	Cis_1M	lymphoblastoid	RTeQTL
rs7313483	CDK2AP1	Cis_1M	lymphoblastoid	RTeQTL
rs7313483	MPHOSPH9	Cis_1M	lymphoblastoid	RTeQTL
rs7313483	RP11-282O18.3	cis	Esophagus Mucosa	GTEx
rs7313483	CDK2AP1	cis	Esophagus Mucosa	GTEx
rs7313483	ARL6IP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123718800-123728400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:123718800-123728400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:123718800-123733000	Weak transcription	Esophagus	oesophagus
4	chr12:123718800-123733800	Weak transcription	Aorta	Aorta
5	chr12:123718800-123739600	Weak transcription	Fetal Kidney	kidney
6	chr12:123719000-123728400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:123719000-123731600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:123719000-123732600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:123719000-123735000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:123719200-123733000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:123719200-123735200	Weak transcription	Ovary	ovary
12	chr12:123719600-123734200	Weak transcription	Colonic Mucosa	Colon
13	chr12:123719600-123738400	Weak transcription	NH-A	brain
14	chr12:123719800-123728800	Strong transcription	Fetal Stomach	stomach
15	chr12:123719800-123733600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:123719800-123733600	Weak transcription	Spleen	Spleen
17	chr12:123719800-123733800	Weak transcription	Fetal Intestine Large	intestine
18	chr12:123720000-123732800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr12:123720000-123736000	Weak transcription	Gastric	stomach
20	chr12:123720000-123738000	Weak transcription	Small Intestine	intestine
21	chr12:123720200-123735200	Weak transcription	Pancreas	Pancrea
22	chr12:123720600-123733000	Weak transcription	Fetal Brain Female	brain
23	chr12:123720800-123727400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:123721000-123733800	Weak transcription	Lung	lung
25	chr12:123721200-123727200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:123721600-123735200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:123722800-123727000	Weak transcription	HSMMtube	muscle
28	chr12:123722800-123733600	Weak transcription	Osteobl	bone
29	chr12:123723000-123733000	Weak transcription	Dnd41	blood
30	chr12:123723200-123729400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:123723200-123733000	Weak transcription	NHLF	lung
32	chr12:123723400-123735000	Weak transcription	Stomach Mucosa	stomach
33	chr12:123723600-123733000	Weak transcription	Primary B cells from cord blood	blood
34	chr12:123723800-123728200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:123724200-123727800	Strong transcription	NHEK	skin
36	chr12:123724400-123727600	Strong transcription	A549	lung
37	chr12:123724400-123733000	Weak transcription	HMEC	breast
38	chr12:123724600-123735200	Weak transcription	Placenta	Placenta
39	chr12:123725000-123727200	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:123725200-123727200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:123725200-123738000	Weak transcription	HSMM	muscle
42	chr12:123725400-123727000	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr12:123725400-123727600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:123725600-123727000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:123725800-123727600	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr12:123725800-123746400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr12:123726200-123727000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr12:123726200-123727000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:123726200-123727000	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr12:123726200-123727000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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