Variant report

Variant	rs7295288
Chromosome Location	chr12:118855813-118855814
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118843686..118846621-chr12:118854145..118856022,2	K562	blood:
2	chr12:118834411..118836226-chr12:118855640..118858351,2	K562	blood:
3	chr12:118573808..118576071-chr12:118855410..118857691,2	K562	blood:

Variant related genes	Relation type
ENSG00000176834	Chromatin interaction

Extended variants
information (count: 132 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs1060964	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850967	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs11068891	0.92[CEU][hapmap]
rs11068908	0.92[CEU][hapmap]
rs11068917	0.92[CEU][hapmap]
rs11068919	1.00[CEU][hapmap]
rs12229607	0.93[CEU][hapmap]
rs16948193	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs16948197	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs16948204	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs16948230	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs16948234	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs16948250	1.00[CEU][hapmap]
rs17440669	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17440774	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17440823	0.92[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs17440893	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440942	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440956	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17441033	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441047	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441061	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441075	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441172	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441214	1.00[ASN][1000 genomes]
rs17441251	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512407	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs17512483	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17512525	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17512574	0.92[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs17512609	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512644	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs17512652	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512763	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17513006	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17513013	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17619932	0.92[CEU][hapmap]
rs1909617	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036489	0.80[EUR][1000 genomes]
rs2055534	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062519	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2393403	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393415	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393416	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2893771	1.00[ASN][1000 genomes]
rs4406856	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4457791	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766899	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs4766900	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767669	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767670	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4767672	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs507517	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs55659011	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55842338	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55929628	1.00[ASN][1000 genomes]
rs56080343	0.81[EUR][1000 genomes]
rs56133316	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56157623	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56190986	1.00[ASN][1000 genomes]
rs56275187	1.00[ASN][1000 genomes]
rs56284927	0.80[EUR][1000 genomes]
rs56324376	0.80[EUR][1000 genomes]
rs56347775	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59594854	0.80[EUR][1000 genomes]
rs61943367	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943368	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943385	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943388	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943389	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943391	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943392	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943393	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943397	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943399	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943400	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943401	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943402	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943403	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943404	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943405	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943406	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943443	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943444	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943447	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943451	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943452	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943454	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943455	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943456	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943457	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490173	0.92[CEU][hapmap]
rs6490177	1.00[CEU][hapmap]
rs673078	1.00[CHB][hapmap]
rs7132753	0.95[EUR][1000 genomes]
rs7136676	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137055	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137184	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294498	1.00[CEU][hapmap]
rs7299040	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302387	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs7303417	0.92[CEU][hapmap]
rs7304342	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305647	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307393	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7309484	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309671	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7312555	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314987	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs73205576	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73205579	1.00[ASN][1000 genomes]
rs73205594	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73207504	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73207564	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73207566	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958551	0.87[EUR][1000 genomes]
rs7958652	0.87[EUR][1000 genomes]
rs7961312	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs7962185	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs7965350	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs7967900	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968011	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968371	0.89[EUR][1000 genomes]
rs882927	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884844	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs950288	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs965524	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9943819	0.92[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7295288	SUDS3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118816000-118862000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:118816200-118863400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:118816800-118856600	Strong transcription	Placenta	Placenta
4	chr12:118817000-118856000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr12:118817200-118856600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:118817200-118856600	Strong transcription	Fetal Intestine Large	intestine
7	chr12:118822000-118856200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:118830000-118856800	Strong transcription	Adipose Nuclei	Adipose
9	chr12:118830800-118857400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:118836200-118856800	Strong transcription	Fetal Muscle Leg	muscle
11	chr12:118840400-118856000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:118841000-118856200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:118846600-118856000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:118847200-118856400	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr12:118847400-118857000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr12:118848400-118856000	Strong transcription	Primary hematopoietic stem cells	blood
17	chr12:118848800-118857400	Strong transcription	Duodenum Mucosa	Duodenum
18	chr12:118850400-118860400	Weak transcription	Fetal Brain Male	brain
19	chr12:118850800-118856400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:118850800-118856600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:118850800-118856600	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:118851400-118857200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:118851800-118856400	Strong transcription	Fetal Lung	lung
24	chr12:118852200-118860200	Weak transcription	NHDF-Ad	bronchial
25	chr12:118852600-118864600	Weak transcription	HSMMtube	muscle
26	chr12:118852800-118857000	Weak transcription	K562	blood
27	chr12:118853200-118865400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr12:118853400-118856400	Weak transcription	Esophagus	oesophagus
29	chr12:118853400-118859800	Weak transcription	HepG2	liver
30	chr12:118853400-118867600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:118854000-118857400	Weak transcription	Fetal Kidney	kidney
32	chr12:118854000-118857600	Weak transcription	Fetal Brain Female	brain
33	chr12:118854000-118870800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:118854200-118856000	Weak transcription	Dnd41	blood
35	chr12:118854200-118857800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:118854200-118858000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:118854200-118860200	Weak transcription	NH-A	brain
38	chr12:118854200-118864600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr12:118854400-118856000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr12:118854400-118856200	Weak transcription	Brain Angular Gyrus	brain
41	chr12:118854400-118856200	Weak transcription	Osteobl	bone
42	chr12:118854400-118856600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:118854400-118860200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr12:118854400-118867600	Weak transcription	Gastric	stomach
45	chr12:118854600-118856400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:118854600-118859200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:118854600-118864800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr12:118854600-118866800	Weak transcription	Aorta	Aorta
49	chr12:118854600-118867600	Weak transcription	Ovary	ovary
50	chr12:118854600-118870800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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