Variant report

Variant	rs10783374
Chromosome Location	chr12:50979905-50979906
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50973790..50975589-chr12:50979477..50982440,2	MCF-7	breast:
2	chr12:50979886..50981797-chr12:50988399..50990199,2	MCF-7	breast:
3	chr12:50977912..50980011-chr12:50981947..50983773,4	K562	blood:
4	chr12:50977211..50979988-chr12:50984620..50986516,3	MCF-7	breast:
5	chr12:50974915..50976857-chr12:50978600..50980892,2	K562	blood:
6	chr12:50975357..50978309-chr12:50978600..50980737,2	K562	blood:
7	chr12:50976913..50978779-chr12:50979212..50980954,2	K562	blood:

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10431486	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10431535	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10444547	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10459233	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs10459234	0.82[EUR][1000 genomes]
rs10459235	0.85[EUR][1000 genomes]
rs10506294	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10506295	0.84[EUR][1000 genomes]
rs10747584	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10747585	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10747587	0.85[EUR][1000 genomes]
rs10783369	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10783370	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10783371	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10783372	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10783373	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10783375	0.87[EUR][1000 genomes]
rs10783378	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10783381	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10783382	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10783383	0.85[EUR][1000 genomes]
rs10783384	0.84[EUR][1000 genomes]
rs10876042	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10876043	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10876047	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10876051	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876052	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876053	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10876056	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10876058	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876060	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876061	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876063	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876064	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10876065	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876067	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10876068	0.83[ASN][1000 genomes]
rs10876070	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10876071	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10876072	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10876073	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10876075	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10876076	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11169457	0.84[EUR][1000 genomes]
rs11169479	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169480	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169481	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169483	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169487	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169493	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169498	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169505	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169507	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11169515	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11169528	0.85[EUR][1000 genomes]
rs11169532	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11169537	0.84[EUR][1000 genomes]
rs11169538	0.81[EUR][1000 genomes]
rs11169539	0.81[EUR][1000 genomes]
rs11613488	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615933	0.85[EUR][1000 genomes]
rs12230242	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12231309	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12231317	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12580051	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12582712	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12809086	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12827022	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17124930	0.84[EUR][1000 genomes]
rs34867510	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs35845404	0.81[EUR][1000 genomes]
rs3742063	0.81[EUR][1000 genomes]
rs3742064	0.81[EUR][1000 genomes]
rs3825402	0.81[EUR][1000 genomes]
rs3893353	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3935138	0.87[EUR][1000 genomes]
rs3935869	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4131769	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4238106	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4238108	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4516034	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4617661	0.82[EUR][1000 genomes]
rs4768847	0.82[EUR][1000 genomes]
rs4768850	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4768852	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768858	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4768884	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4768888	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4768889	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4768890	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768892	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768893	1.00[EUR][1000 genomes]
rs4768895	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768899	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768906	0.85[EUR][1000 genomes]
rs4768907	0.84[EUR][1000 genomes]
rs4768911	0.81[EUR][1000 genomes]
rs4768912	0.84[EUR][1000 genomes]
rs4768913	0.84[EUR][1000 genomes]
rs4768914	0.80[EUR][1000 genomes]
rs55680342	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55877451	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61926275	0.85[EUR][1000 genomes]
rs6580756	0.81[EUR][1000 genomes]
rs67092086	0.87[EUR][1000 genomes]
rs7134976	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7138604	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7307419	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7316864	0.87[EUR][1000 genomes]
rs7397999	0.87[EUR][1000 genomes]
rs7956591	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs876078	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs876079	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs952318	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9788159	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers 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	7 gene(s)	inside rSNPs	diseases
2	nsv558850	chr12:50973897-50983771	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv1816169	chr12:50973897-51002088	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1817171	chr12:50973897-51002088	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1821299	chr12:50973897-51002088	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv1822840	chr12:50973897-51015509	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50962400-50983200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:50967200-50983000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr12:50967400-50991200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:50967400-50991200	Weak transcription	Aorta	Aorta
5	chr12:50968600-50983000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:50968800-50982200	Weak transcription	Fetal Brain Female	brain
7	chr12:50968800-50989000	Weak transcription	Fetal Intestine Small	intestine
8	chr12:50968800-50997400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:50969000-50983200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:50969000-50983400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:50969400-50983400	Weak transcription	NHLF	lung
12	chr12:50969600-50981000	Weak transcription	Fetal Intestine Large	intestine
13	chr12:50969600-50983400	Weak transcription	HSMMtube	muscle
14	chr12:50969600-50983600	Weak transcription	Adipose Nuclei	Adipose
15	chr12:50969600-50997400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:50969800-50982000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr12:50969800-50989600	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:50973400-50983200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:50973800-50980200	Weak transcription	Fetal Brain Male	brain
20	chr12:50973800-50983200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:50973800-50983200	Weak transcription	HUVEC	blood vessel
22	chr12:50974000-50981000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:50974000-50981000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:50974000-51011800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr12:50974600-50980000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:50974600-50984000	Weak transcription	Psoas Muscle	Psoas
27	chr12:50975600-50982200	Weak transcription	Brain Germinal Matrix	brain
28	chr12:50975600-50983200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:50975600-50983400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:50975600-50991200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:50975800-50983200	Weak transcription	HMEC	breast
32	chr12:50975800-50983400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:50975800-50989400	Weak transcription	HepG2	liver
34	chr12:50975800-50990200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:50975800-50991400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:50976000-50983200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:50976000-50983200	Weak transcription	Osteobl	bone
38	chr12:50976000-50983400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:50976000-50993400	Weak transcription	Fetal Lung	lung
40	chr12:50976200-50983200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:50976200-50991200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:50976600-50982200	Weak transcription	Dnd41	blood
43	chr12:50976800-50980000	Strong transcription	Primary B cells from cord blood	blood
44	chr12:50976800-50983200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:50977000-50983400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr12:50977200-50980800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr12:50977200-50983400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:50977200-50983400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:50977400-50980800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr12:50977400-50983200	Weak transcription	Thymus	Thymus

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