Variant report

Variant	rs10778481
Chromosome Location	chr12:106865355-106865356
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 155 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs10047654	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10507211	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10746059	0.80[ASN][1000 genomes]
rs10746060	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10778464	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10778465	0.88[ASN][1000 genomes]
rs10778466	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10778468	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10778469	0.88[ASN][1000 genomes]
rs10778470	1.00[ASN][1000 genomes]
rs10778471	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10778473	1.00[ASN][1000 genomes]
rs10778474	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10778475	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778476	0.88[ASN][1000 genomes]
rs10778477	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10778478	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861580	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10861581	0.80[ASN][1000 genomes]
rs10861582	0.80[ASN][1000 genomes]
rs10861583	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10861585	0.80[ASN][1000 genomes]
rs10861586	0.80[ASN][1000 genomes]
rs10861587	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10861589	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10861590	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861591	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861592	0.88[ASN][1000 genomes]
rs10861593	0.88[ASN][1000 genomes]
rs10861594	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861595	0.88[ASN][1000 genomes]
rs10861597	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861598	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861599	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861601	1.00[ASN][1000 genomes]
rs10861604	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10861605	0.88[ASN][1000 genomes]
rs10861608	0.88[ASN][1000 genomes]
rs10861609	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112940	0.81[ASN][1000 genomes]
rs11112942	0.81[ASN][1000 genomes]
rs11112943	0.81[ASN][1000 genomes]
rs11112948	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11112949	0.80[ASN][1000 genomes]
rs11112951	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11112952	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11112953	0.80[ASN][1000 genomes]
rs11112956	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11112957	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11112961	0.84[ASN][1000 genomes]
rs11112971	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11112979	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11112980	1.00[ASN][1000 genomes]
rs11112986	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11112990	0.88[ASN][1000 genomes]
rs11112991	0.88[ASN][1000 genomes]
rs11112992	0.88[ASN][1000 genomes]
rs11112993	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11112995	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11113003	0.88[ASN][1000 genomes]
rs11113004	0.88[ASN][1000 genomes]
rs11113009	0.88[ASN][1000 genomes]
rs11113011	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1134577	0.81[ASN][1000 genomes]
rs11609315	0.88[ASN][1000 genomes]
rs11611176	0.88[ASN][1000 genomes]
rs11611252	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611815	0.81[ASN][1000 genomes]
rs11615682	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11835357	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835362	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12298876	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305705	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12309708	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309758	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312915	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12322877	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12422988	0.81[ASN][1000 genomes]
rs12423068	0.88[ASN][1000 genomes]
rs12424092	0.90[AFR][1000 genomes]
rs12425459	0.88[ASN][1000 genomes]
rs17038414	0.88[ASN][1000 genomes]
rs17221107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17284674	0.81[ASN][1000 genomes]
rs1921952	0.81[ASN][1000 genomes]
rs2141774	0.89[ASN][1000 genomes]
rs2141775	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2243455	0.81[ASN][1000 genomes]
rs2264759	0.81[AFR][1000 genomes]
rs2374606	0.88[ASN][1000 genomes]
rs2374610	0.84[ASN][1000 genomes]
rs28669886	0.81[ASN][1000 genomes]
rs2888888	0.81[ASN][1000 genomes]
rs34955444	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3851631	0.88[ASN][1000 genomes]
rs3851632	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3851633	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4509864	0.90[EUR][1000 genomes]
rs55678155	0.88[ASN][1000 genomes]
rs55689816	0.80[ASN][1000 genomes]
rs58297001	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58767490	0.81[ASN][1000 genomes]
rs60224628	0.81[ASN][1000 genomes]
rs60635749	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61940334	0.81[ASN][1000 genomes]
rs61940335	0.81[ASN][1000 genomes]
rs61940342	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61941917	1.00[ASN][1000 genomes]
rs61941918	0.88[ASN][1000 genomes]
rs61941920	0.88[ASN][1000 genomes]
rs61941921	0.88[ASN][1000 genomes]
rs61941922	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61941943	0.88[ASN][1000 genomes]
rs61941944	0.88[ASN][1000 genomes]
rs61943672	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61943690	0.88[ASN][1000 genomes]
rs61943693	0.84[ASN][1000 genomes]
rs61943694	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6539268	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6539269	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539270	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539271	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67911933	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67966244	0.88[ASN][1000 genomes]
rs7132971	0.81[ASN][1000 genomes]
rs7134615	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7134881	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7135054	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7136098	0.84[ASN][1000 genomes]
rs7137445	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7139139	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7139249	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297873	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298462	0.80[ASN][1000 genomes]
rs7303737	0.82[AFR][1000 genomes]
rs7303873	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7306012	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7306277	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306326	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308541	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7309020	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7310703	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7311957	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7313040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7315549	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961133	0.81[ASN][1000 genomes]
rs7963213	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965520	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969743	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7971581	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7976305	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv3435035	chr12:106765277-107015325	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv832510	chr12:106787730-106951140	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106824800-106866400	Weak transcription	NHLF	lung
2	chr12:106828600-106905800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:106829000-106867200	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:106830400-106865800	Weak transcription	K562	blood
5	chr12:106852600-106867200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:106853400-106886400	Weak transcription	Fetal Kidney	kidney
7	chr12:106854200-106886800	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:106854400-106865400	Weak transcription	Brain Substantia Nigra	brain
9	chr12:106854400-106874000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:106854400-106904800	Weak transcription	HSMM	muscle
11	chr12:106854600-106872000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:106854600-106899800	Weak transcription	Fetal Thymus	thymus
13	chr12:106854800-106867000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:106854800-106874800	Weak transcription	HepG2	liver
15	chr12:106855800-106865600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:106855800-106895600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:106855800-106896200	Weak transcription	Thymus	Thymus
18	chr12:106856000-106893000	Weak transcription	Right Ventricle	heart
19	chr12:106856600-106866800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:106856800-106867000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:106856800-106884000	Weak transcription	NHEK	skin
22	chr12:106856800-106889400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:106856800-106899400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:106857000-106866800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr12:106857200-106890200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:106858200-106866200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:106858200-106866800	Weak transcription	Osteobl	bone
28	chr12:106858600-106895400	Weak transcription	Fetal Heart	heart
29	chr12:106859200-106882800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:106863600-106865600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:106864000-106865600	Strong transcription	Primary T cells from cord blood	blood
32	chr12:106864200-106865400	Strong transcription	Duodenum Mucosa	Duodenum
33	chr12:106864200-106865400	ZNF genes & repeats	Ovary	ovary
34	chr12:106864200-106865600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:106864200-106865600	Strong transcription	Fetal Intestine Large	intestine
36	chr12:106864400-106865400	Strong transcription	Primary B cells from cord blood	blood
37	chr12:106864400-106865400	ZNF genes & repeats	Esophagus	oesophagus
38	chr12:106864400-106865400	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:106864400-106865400	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr12:106864400-106865400	Strong transcription	Stomach Smooth Muscle	stomach
41	chr12:106864400-106865600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:106864400-106865600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
43	chr12:106864400-106865600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:106864400-106865600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
45	chr12:106864400-106865600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:106864400-106865600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:106864400-106865600	ZNF genes & repeats	Fetal Muscle Leg	muscle
48	chr12:106864600-106865400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:106864600-106865400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
50	chr12:106864600-106865400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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