Variant report

Variant	rs7847
Chromosome Location	chr12:105155605-105155606
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105154675..105157648-chr12:105161416..105163979,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf45-3	chr12:105151948-105155783	NONHSAT030431

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1002803	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1038968	0.82[EUR][1000 genomes]
rs1070316	0.84[EUR][1000 genomes]
rs1155994	0.87[EUR][1000 genomes]
rs1316594	0.88[EUR][1000 genomes]
rs1389609	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1389612	0.87[EUR][1000 genomes]
rs1474459	0.91[EUR][1000 genomes]
rs1565813	0.82[EUR][1000 genomes]
rs1565815	0.88[EUR][1000 genomes]
rs2047124	0.81[EUR][1000 genomes]
rs2131806	0.85[EUR][1000 genomes]
rs2141248	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2245927	0.88[EUR][1000 genomes]
rs2245931	0.88[EUR][1000 genomes]
rs2248012	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2453154	0.84[EUR][1000 genomes]
rs2453155	0.85[EUR][1000 genomes]
rs2453156	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453157	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2453158	0.84[EUR][1000 genomes]
rs2453160	0.88[EUR][1000 genomes]
rs2453161	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2453166	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2453167	0.88[EUR][1000 genomes]
rs2453168	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2463016	0.88[EUR][1000 genomes]
rs2463017	0.88[EUR][1000 genomes]
rs2463018	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2463019	0.82[EUR][1000 genomes]
rs2463025	0.88[EUR][1000 genomes]
rs2463429	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2463431	0.81[EUR][1000 genomes]
rs2463432	0.87[EUR][1000 genomes]
rs2463433	0.88[EUR][1000 genomes]
rs2463437	0.92[EUR][1000 genomes]
rs2463438	0.90[EUR][1000 genomes]
rs2463439	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2463440	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2463441	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2463442	0.82[EUR][1000 genomes]
rs2463443	0.86[EUR][1000 genomes]
rs2463444	0.87[EUR][1000 genomes]
rs2468083	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2468089	0.87[EUR][1000 genomes]
rs2468090	0.83[EUR][1000 genomes]
rs2468099	0.88[EUR][1000 genomes]
rs2468100	0.88[EUR][1000 genomes]
rs2468105	0.87[EUR][1000 genomes]
rs2468109	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2468110	0.87[EUR][1000 genomes]
rs2468340	0.84[EUR][1000 genomes]
rs2565167	0.88[EUR][1000 genomes]
rs2642110	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2642116	0.88[EUR][1000 genomes]
rs2730291	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2730295	0.82[EUR][1000 genomes]
rs2731030	0.82[EUR][1000 genomes]
rs6539167	0.81[EUR][1000 genomes]
rs6539170	0.85[EUR][1000 genomes]
rs703681	0.91[EUR][1000 genomes]
rs7980681	0.86[EUR][1000 genomes]
rs903247	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899496	chr12:105152391-105199038	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv899497	chr12:105155291-105247010	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7847	CHST11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105137200-105157000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr12:105142400-105160800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:105142600-105158000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:105142800-105158200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:105143800-105156800	Weak transcription	NHLF	lung
6	chr12:105143800-105160800	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:105144000-105158200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:105144200-105156800	Weak transcription	NHDF-Ad	bronchial
9	chr12:105144200-105157000	Weak transcription	NH-A	brain
10	chr12:105144200-105158000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:105145200-105158200	Weak transcription	Adipose Nuclei	Adipose
12	chr12:105145400-105161200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:105145600-105162800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:105145800-105161200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:105145800-105161200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:105145800-105161400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:105146000-105161400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:105146800-105156000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:105146800-105161200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:105148400-105156000	Weak transcription	Pancreas	Pancrea
21	chr12:105149600-105157000	Weak transcription	HMEC	breast
22	chr12:105150000-105156000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr12:105151400-105156600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:105151400-105156800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:105151400-105158400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:105151400-105161200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:105151600-105156000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:105151600-105156800	Weak transcription	GM12878-XiMat	blood
29	chr12:105151600-105157000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:105151600-105157000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:105151600-105157000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:105151600-105157000	Weak transcription	A549	lung
33	chr12:105151600-105157400	Weak transcription	HSMMtube	muscle
34	chr12:105151600-105158400	Weak transcription	Ovary	ovary
35	chr12:105151600-105160800	Weak transcription	Esophagus	oesophagus
36	chr12:105151600-105161800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:105151600-105162800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:105151800-105157000	Weak transcription	Osteobl	bone
39	chr12:105152200-105158000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:105152400-105162600	Weak transcription	Brain Anterior Caudate	brain
41	chr12:105152600-105158000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:105152600-105158400	Weak transcription	Placenta	Placenta
43	chr12:105152800-105157000	Weak transcription	Spleen	Spleen
44	chr12:105153000-105156200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr12:105153000-105156400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr12:105153000-105156800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:105153000-105157000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:105153000-105157000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:105153000-105157000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:105153000-105157000	Weak transcription	Lung	lung

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