Variant report

Variant	rs2253376
Chromosome Location	chr12:51010839-51010840
allele	A/C
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 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	chr12:50898604..50900466-chr12:51010594..51012574,2	MCF-7	breast:
6	chr12:51008977..51011248-chr12:51015762..51017787,2	MCF-7	breast:
7	chr12:50973979..50976902-chr12:51009398..51011703,2	MCF-7	breast:
8	chr12:51010106..51013321-chr12:51014428..51017771,4	K562	blood:
9	chr12:51005135..51007601-chr12:51009064..51012183,3	K562	blood:
10	chr12:51009757..51011293-chr12:51019509..51021830,2	K562	blood:
11	chr12:50898246..50903498-chr12:51010215..51015015,10	MCF-7	breast:
12	chr12:50924997..50928021-chr12:51009408..51011641,3	MCF-7	breast:
13	chr12:51010138..51012030-chr17:57922744..57924361,2	MCF-7	breast:
14	chr12:51007721..51011700-chr12:51012673..51015464,4	MCF-7	breast:
15	chr12:50925303..50926862-chr12:51010690..51012401,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000066084	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10083076	1.00[EUR][1000 genomes]
rs10431531	1.00[EUR][1000 genomes]
rs10431532	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10431533	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10732734	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10747582	1.00[EUR][1000 genomes]
rs10783360	1.00[EUR][1000 genomes]
rs10876029	1.00[EUR][1000 genomes]
rs10876040	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10876079	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs1096028	1.00[EUR][1000 genomes]
rs1096029	1.00[EUR][1000 genomes]
rs11169464	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12146806	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12300290	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12302810	0.89[AMR][1000 genomes]
rs12302812	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12307085	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12321891	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12322206	0.84[YRI][hapmap]
rs12322925	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12367373	1.00[EUR][1000 genomes]
rs1464436	1.00[EUR][1000 genomes]
rs1465860	0.81[AFR][1000 genomes]
rs1595597	1.00[EUR][1000 genomes]
rs1642998	1.00[EUR][1000 genomes]
rs1879622	1.00[EUR][1000 genomes]
rs1975351	0.92[YRI][hapmap];1.00[EUR][1000 genomes]
rs2037453	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2252608	0.83[AFR][1000 genomes]
rs2359188	1.00[EUR][1000 genomes]
rs2464125	0.91[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2468378	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2554869	1.00[EUR][1000 genomes]
rs2684895	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684896	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684897	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684904	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684905	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684907	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684909	0.84[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700476	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700477	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700481	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700483	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731435	0.92[YRI][hapmap]
rs2731437	0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731438	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731441	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731444	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731445	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731446	0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731447	0.92[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731448	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4238103	1.00[EUR][1000 genomes]
rs4259895	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4293196	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4334109	1.00[EUR][1000 genomes]
rs4491331	1.00[EUR][1000 genomes]
rs4617660	1.00[EUR][1000 genomes]
rs4768896	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768897	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768898	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768908	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs4768910	1.00[EUR][1000 genomes]
rs4768916	1.00[EUR][1000 genomes]
rs4768919	1.00[EUR][1000 genomes]
rs6421169	1.00[EUR][1000 genomes]
rs6580749	1.00[EUR][1000 genomes]
rs6580750	1.00[EUR][1000 genomes]
rs6580758	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6580759	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6580762	1.00[EUR][1000 genomes]
rs7133107	1.00[EUR][1000 genomes]
rs7302222	1.00[EUR][1000 genomes]
rs7309410	1.00[EUR][1000 genomes]
rs7309896	1.00[EUR][1000 genomes]
rs7310522	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7310686	1.00[EUR][1000 genomes]
rs7312349	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7313783	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7314198	1.00[EUR][1000 genomes]
rs7954152	1.00[EUR][1000 genomes]
rs7963866	1.00[EUR][1000 genomes]
rs7966009	1.00[EUR][1000 genomes]
rs7976281	0.84[YRI][hapmap];0.87[AMR][1000 genomes]
rs829116	1.00[EUR][1000 genomes]
rs829117	1.00[EUR][1000 genomes]
rs829118	1.00[EUR][1000 genomes]
rs829119	1.00[EUR][1000 genomes]
rs829121	1.00[EUR][1000 genomes]
rs829136	1.00[EUR][1000 genomes]
rs829137	1.00[EUR][1000 genomes]
rs829138	1.00[EUR][1000 genomes]
rs939632	0.92[YRI][hapmap];1.00[EUR][1000 genomes]
rs939634	0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9634263	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9804978	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9943796	1.00[EUR][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	chr12:51005000-51013600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:51005600-51013200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:51005600-51013800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:51005800-51011200	Enhancers	Fetal Brain Male	brain
22	chr12:51005800-51013800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:51006000-51014000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:51006000-51014200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr12:51006200-51012800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:51006200-51012800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:51006200-51014000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:51006600-51016000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:51007000-51011000	Enhancers	Placenta Amnion	Placenta Amnion
30	chr12:51007000-51012200	Weak transcription	Fetal Intestine Small	intestine
31	chr12:51007000-51013200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:51007000-51017600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr12:51007200-51013600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:51007400-51014000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr12:51007600-51012000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:51007600-51012800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:51007600-51013200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:51007600-51013200	Weak transcription	Aorta	Aorta
39	chr12:51007600-51014200	Weak transcription	Primary B cells from cord blood	blood
40	chr12:51008200-51014600	Weak transcription	Fetal Kidney	kidney
41	chr12:51008400-51012000	Weak transcription	Right Atrium	heart
42	chr12:51008400-51012800	Weak transcription	Fetal Muscle Leg	muscle
43	chr12:51008400-51012800	Weak transcription	Pancreas	Pancrea
44	chr12:51008400-51013000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:51008400-51013200	Weak transcription	Right Ventricle	heart
46	chr12:51008400-51013800	Weak transcription	Adipose Nuclei	Adipose
47	chr12:51008600-51012000	Weak transcription	Esophagus	oesophagus
48	chr12:51008600-51013000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr12:51008600-51013200	Weak transcription	Left Ventricle	heart
50	chr12:51008600-51013200	Weak transcription	NHLF	lung

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