Variant report

Variant	rs7134976
Chromosome Location	chr12:51010092-51010093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50951137..50952780-chr12:51008933..51011689,2	MCF-7	breast:
2	chr12:51007874..51011257-chr12:51018084..51021009,3	K562	blood:
3	chr12:51007470..51011222-chr12:51011716..51014523,4	K562	blood:
4	chr12:50943053..50945273-chr12:51008692..51011511,2	K562	blood:
5	chr12:51004677..51007601-chr12:51009025..51010715,2	K562	blood:
6	chr12:51008977..51011248-chr12:51015762..51017787,2	MCF-7	breast:
7	chr12:50973979..50976902-chr12:51009398..51011703,2	MCF-7	breast:
8	chr12:51007812..51010612-chr12:51033859..51035797,2	MCF-7	breast:
9	chr12:50930328..50933130-chr12:51007851..51010241,3	MCF-7	breast:
10	chr12:51005135..51007601-chr12:51009064..51012183,3	K562	blood:
11	chr12:51009757..51011293-chr12:51019509..51021830,2	K562	blood:
12	chr12:50924997..50928021-chr12:51009408..51011641,3	MCF-7	breast:
13	chr12:51007721..51011700-chr12:51012673..51015464,4	MCF-7	breast:
14	chr12:51009080..51010679-chr20:45987121..45988864,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000066084	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs1003033	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10431486	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10431535	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10444547	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10459233	0.89[EUR][1000 genomes]
rs10459234	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10459235	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10506294	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10506295	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10747584	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10747585	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10747587	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10783369	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10783370	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10783371	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10783372	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10783373	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10783374	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10783378	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10783381	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10783382	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10783383	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10783384	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10876042	0.88[EUR][1000 genomes]
rs10876043	0.89[EUR][1000 genomes]
rs10876047	0.92[EUR][1000 genomes]
rs10876051	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10876052	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10876053	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10876056	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10876058	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10876060	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10876061	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10876063	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10876065	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10876067	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10876068	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10876070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876071	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876072	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876073	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10876075	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10876076	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11169479	0.92[EUR][1000 genomes]
rs11169480	0.92[EUR][1000 genomes]
rs11169481	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11169483	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169487	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11169493	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11169498	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11169505	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169507	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169515	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169528	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11169532	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11169537	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11169538	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11169539	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11613488	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11615933	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12230242	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12231309	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12231317	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12580051	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12580479	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12582712	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12809086	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12827022	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17124930	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2243571	0.84[EUR][1000 genomes]
rs2684908	0.81[EUR][1000 genomes]
rs2700478	0.86[EUR][1000 genomes]
rs34867510	0.88[EUR][1000 genomes]
rs35845404	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3742063	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3742064	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3825402	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3893353	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3935869	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4131769	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4238106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238107	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4238108	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4516034	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4768850	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4768852	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4768853	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768858	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4768884	0.92[EUR][1000 genomes]
rs4768888	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4768889	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4768890	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4768892	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4768893	0.92[EUR][1000 genomes]
rs4768895	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768904	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4768906	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4768907	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4768911	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4768912	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4768913	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4768914	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55680342	0.90[EUR][1000 genomes]
rs55877451	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61926275	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7138604	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7305375	0.87[EUR][1000 genomes]
rs7307419	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7956591	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs876078	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs876079	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs876080	0.84[EUR][1000 genomes]
rs952318	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9788159	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50974000-51011800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:50979200-51013800	Weak transcription	Fetal Stomach	stomach
3	chr12:50991600-51014000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:50992400-51015200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:50993000-51013800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr12:50993000-51013800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:50993600-51013400	Weak transcription	GM12878-XiMat	blood
8	chr12:50994400-51012400	Weak transcription	Primary T cells from cord blood	blood
9	chr12:50994600-51018600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr12:50997600-51013000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:50997600-51014200	Weak transcription	Spleen	Spleen
12	chr12:50998000-51012000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:50998600-51013000	Weak transcription	Gastric	stomach
14	chr12:51001000-51012000	Weak transcription	Fetal Intestine Large	intestine
15	chr12:51001400-51012800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr12:51003600-51013200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:51003600-51015400	Enhancers	Brain Hippocampus Middle	brain
18	chr12:51005000-51010800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr12:51005000-51010800	Enhancers	Brain Substantia Nigra	brain
20	chr12:51005000-51013600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr12:51005600-51013200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:51005600-51013800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:51005800-51011200	Enhancers	Fetal Brain Male	brain
24	chr12:51005800-51013800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:51006000-51014000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:51006000-51014200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:51006200-51012800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:51006200-51012800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:51006200-51014000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:51006400-51010600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr12:51006400-51010600	Enhancers	Fetal Brain Female	brain
32	chr12:51006400-51010600	Enhancers	Fetal Heart	heart
33	chr12:51006600-51010200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr12:51006600-51010200	Enhancers	Brain Angular Gyrus	brain
35	chr12:51006600-51010400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr12:51006600-51010400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr12:51006600-51010600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr12:51006600-51010600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr12:51006600-51010800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:51006600-51010800	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr12:51006600-51010800	Enhancers	Brain Anterior Caudate	brain
42	chr12:51006600-51016000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:51006800-51010400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr12:51007000-51010800	Enhancers	Brain Cingulate Gyrus	brain
45	chr12:51007000-51011000	Enhancers	Placenta Amnion	Placenta Amnion
46	chr12:51007000-51012200	Weak transcription	Fetal Intestine Small	intestine
47	chr12:51007000-51013200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:51007000-51017600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr12:51007200-51013600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:51007400-51014000	Weak transcription	Primary B cells from peripheral blood	blood

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