Variant report

Variant	rs11169553
Chromosome Location	chr12:51159553-51159554
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50497524..50499290-chr12:51157685..51160627,2	MCF-7	breast:
2	chr12:51156114..51160622-chr12:51418657..51421869,11	K562	blood:
3	chr12:51157036..51159803-chr12:51442013..51443781,2	K562	blood:
4	chr12:51159003..51159746-chr12:51745461..51746336,2	K562	blood:
5	chr12:51158475..51160420-chr12:51281763..51283394,2	K562	blood:
6	chr12:51155914..51160622-chr12:51417270..51421869,9	K562	blood:
7	chr12:51158682..51159758-chr12:51380494..51381376,3	MCF-7	breast:
8	chr12:50898290..50900177-chr12:51158500..51160466,2	MCF-7	breast:
9	chr12:51155753..51160968-chr12:51475872..51478809,5	MCF-7	breast:
10	chr12:51159221..51162164-chr12:51418632..51421026,2	MCF-7	breast:
11	chr12:51159439..51159963-chr12:51419339..51419854,2	MCF-7	breast:
12	chr12:51156345..51159697-chr12:51418125..51424480,11	MCF-7	breast:
13	chr12:51158399..51160694-chr12:51565412..51567742,2	K562	blood:
14	chr12:51155941..51160401-chr12:51475746..51478915,6	K562	blood:
15	chr12:51159281..51161379-chr12:51202424..51204535,2	K562	blood:
16	chr12:50897453..50902823-chr12:51156009..51160960,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000135457	Chromatin interaction
ENSG00000167588	Chromatin interaction
ENSG00000066084	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000050426	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10506296	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10735827	0.98[ASN][1000 genomes]
rs10747590	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10747592	0.98[ASN][1000 genomes]
rs10747593	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10783368	0.90[EUR][1000 genomes]
rs10783388	0.98[ASN][1000 genomes]
rs10876048	0.90[EUR][1000 genomes]
rs10876054	0.90[EUR][1000 genomes]
rs10876057	0.82[EUR][1000 genomes]
rs10876082	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876083	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876085	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876088	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876091	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169551	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169556	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12099615	0.86[EUR][1000 genomes]
rs12296379	0.86[EUR][1000 genomes]
rs12320201	0.90[EUR][1000 genomes]
rs13328926	0.86[EUR][1000 genomes]
rs1402693	0.86[EUR][1000 genomes]
rs1521515	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1521517	0.90[EUR][1000 genomes]
rs1561422	0.98[ASN][1000 genomes]
rs17124888	0.95[EUR][1000 genomes]
rs17124907	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1815010	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1996750	0.86[EUR][1000 genomes]
rs2246840	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2252595	0.86[EUR][1000 genomes]
rs2684886	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2684890	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2684891	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2684902	0.90[EUR][1000 genomes]
rs2684906	0.90[EUR][1000 genomes]
rs2700486	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28414775	0.86[EUR][1000 genomes]
rs2947617	0.90[EUR][1000 genomes]
rs3803181	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3825401	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4129355	0.90[EUR][1000 genomes]
rs4143663	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4768862	0.89[ASN][1000 genomes]
rs4768887	0.90[EUR][1000 genomes]
rs4768909	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4768915	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4768920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56753963	0.86[EUR][1000 genomes]
rs56818625	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57328764	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57512759	0.86[EUR][1000 genomes]
rs58301497	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58943330	0.86[EUR][1000 genomes]
rs59194948	0.86[EUR][1000 genomes]
rs59284993	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59683461	0.86[EUR][1000 genomes]
rs60239257	0.86[EUR][1000 genomes]
rs60494920	0.86[EUR][1000 genomes]
rs60908906	0.86[EUR][1000 genomes]
rs61926300	0.87[ASN][1000 genomes]
rs6580766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6580767	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6580768	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6580770	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7132443	0.95[EUR][1000 genomes]
rs7135222	0.90[EUR][1000 genomes]
rs7301125	0.90[EUR][1000 genomes]
rs7303202	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7304793	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7306387	0.86[EUR][1000 genomes]
rs7308872	0.84[ASN][1000 genomes]
rs7310507	0.86[EUR][1000 genomes]
rs7487150	0.94[ASN][1000 genomes]
rs7487645	0.86[EUR][1000 genomes]
rs7953880	0.86[EUR][1000 genomes]
rs7955310	0.90[EUR][1000 genomes]
rs7959129	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7964642	0.95[ASN][1000 genomes]
rs7969251	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7978443	0.86[EUR][1000 genomes]
rs7979184	0.81[EUR][1000 genomes]
rs7979474	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829125	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs865490	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs939631	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs951591	0.86[EUR][1000 genomes]
rs9634264	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3497481	chr12:51150734-51185125	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
2	esv3497482	chr12:51151798-51185232	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
3	esv3386327	chr12:51154734-51184232	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51155600-51159600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:51156000-51159600	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr12:51156000-51159600	Active TSS	Colonic Mucosa	Colon
4	chr12:51156000-51159600	Active TSS	Right Ventricle	heart
5	chr12:51156000-51159600	Active TSS	K562	blood
6	chr12:51156200-51159600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:51156200-51159800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr12:51156200-51160000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:51156400-51159800	Active TSS	Rectal Smooth Muscle	rectum
10	chr12:51156600-51159600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:51156600-51159600	Active TSS	Fetal Brain Female	brain
12	chr12:51156800-51159600	Active TSS	NHDF-Ad	bronchial
13	chr12:51156800-51159600	Active TSS	NHLF	lung
14	chr12:51157000-51159600	Active TSS	Thymus	Thymus
15	chr12:51157400-51159600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:51158400-51159800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr12:51158600-51159600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr12:51158600-51159600	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr12:51158600-51159600	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr12:51158600-51159800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:51158600-51160000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr12:51158800-51159600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr12:51158800-51159600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr12:51158800-51159600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr12:51158800-51159600	Flanking Active TSS	Fetal Lung	lung
26	chr12:51158800-51159800	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr12:51158800-51159800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:51158800-51160000	Flanking Active TSS	NHEK	skin
29	chr12:51159000-51159600	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr12:51159000-51159600	Weak transcription	Small Intestine	intestine
31	chr12:51159000-51159600	Flanking Active TSS	Osteobl	bone
32	chr12:51159000-51159800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:51159000-51159800	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr12:51159000-51159800	Weak transcription	Pancreas	Pancrea
35	chr12:51159000-51159800	Flanking Active TSS	HMEC	breast
36	chr12:51159000-51160000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:51159000-51160000	Flanking Active TSS	Dnd41	blood
38	chr12:51159000-51161800	Weak transcription	Gastric	stomach
39	chr12:51159000-51175200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:51159000-51180200	Weak transcription	Esophagus	oesophagus
41	chr12:51159200-51159600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:51159200-51159600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:51159200-51159600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr12:51159200-51159600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr12:51159200-51159600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:51159200-51159600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:51159200-51159600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr12:51159200-51159600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr12:51159200-51159600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:51159200-51159600	Flanking Active TSS	Colon Smooth Muscle	Colon

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