Variant report

Variant	rs11169554
Chromosome Location	chr12:51160207-51160208
allele	A/C/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 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	chr12:50897312..50899880-chr12:51160076..51161982,2	K562	blood:
4	chr12:51158475..51160420-chr12:51281763..51283394,2	K562	blood:
5	chr12:51155914..51160622-chr12:51417270..51421869,9	K562	blood:
6	chr12:50898290..50900177-chr12:51158500..51160466,2	MCF-7	breast:
7	chr12:51155753..51160968-chr12:51475872..51478809,5	MCF-7	breast:
8	chr12:51159221..51162164-chr12:51418632..51421026,2	MCF-7	breast:
9	chr12:51158399..51160694-chr12:51565412..51567742,2	K562	blood:
10	chr12:51155941..51160401-chr12:51475746..51478915,6	K562	blood:
11	chr12:51159281..51161379-chr12:51202424..51204535,2	K562	blood:
12	chr12:50897453..50902823-chr12:51156009..51160960,8	MCF-7	breast:

No data

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

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10459235	0.89[ASN][1000 genomes]
rs10506294	0.80[AMR][1000 genomes]
rs10747587	0.82[AMR][1000 genomes]
rs10783383	0.81[AMR][1000 genomes]
rs10783384	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10783389	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876080	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876081	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876089	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876090	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10876094	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876095	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876096	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876097	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169528	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11169532	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11169537	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11169538	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11169539	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11169544	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169560	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169561	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11615933	0.88[ASN][1000 genomes]
rs12424860	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12580479	0.83[ASN][1000 genomes]
rs12809086	0.80[AMR][1000 genomes]
rs1344958	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17124930	0.81[AMR][1000 genomes]
rs35845404	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3742063	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3742064	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3809319	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825402	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4026593	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4238108	0.80[AMR][1000 genomes]
rs4307773	0.94[ASN][1000 genomes]
rs4768866	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4768906	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4768907	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4768911	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4768912	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4768913	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4768914	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4768917	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768922	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768923	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768924	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4768925	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4768940	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73094900	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73096846	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11169554	DIP2B	cis	Thyroid	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51159000-51161800	Weak transcription	Gastric	stomach
2	chr12:51159000-51175200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:51159000-51180200	Weak transcription	Esophagus	oesophagus
4	chr12:51159200-51160400	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:51159200-51160600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:51159200-51160800	Enhancers	Liver	Liver
7	chr12:51159200-51166400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:51159200-51166600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:51159200-51174600	Weak transcription	Lung	lung
10	chr12:51159200-51179400	Weak transcription	Aorta	Aorta
11	chr12:51159200-51192600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:51159400-51160400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:51159400-51160400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:51159400-51160400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr12:51159400-51160600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:51159400-51160600	Enhancers	Fetal Thymus	thymus
17	chr12:51159400-51160800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr12:51159400-51160800	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr12:51159400-51160800	Enhancers	Brain Angular Gyrus	brain
20	chr12:51159400-51161000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:51159400-51161000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:51159400-51162000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr12:51159400-51162000	Enhancers	Placenta	Placenta
24	chr12:51159400-51163200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr12:51159400-51163400	Flanking Active TSS	Hela-S3	cervix
26	chr12:51159400-51192600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr12:51159600-51160400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr12:51159600-51160400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr12:51159600-51160600	Enhancers	Adipose Nuclei	Adipose
30	chr12:51159600-51160600	Enhancers	Psoas Muscle	Psoas
31	chr12:51159600-51160600	Flanking Active TSS	K562	blood
32	chr12:51159600-51161200	Weak transcription	Colonic Mucosa	Colon
33	chr12:51159600-51161600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:51159600-51163000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:51159600-51165000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:51159600-51166600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:51159600-51189200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:51159800-51160400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:51159800-51160400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:51159800-51160400	Enhancers	Fetal Brain Female	brain
41	chr12:51159800-51160400	Enhancers	Stomach Mucosa	stomach
42	chr12:51159800-51160600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:51159800-51160800	Enhancers	Primary T cells from cord blood	blood
44	chr12:51159800-51160800	Enhancers	Brain Germinal Matrix	brain
45	chr12:51159800-51161000	Enhancers	Ovary	ovary
46	chr12:51159800-51161000	Enhancers	Thymus	Thymus
47	chr12:51159800-51161800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:51159800-51161800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr12:51159800-51162400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:51159800-51163600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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