Variant report

Variant	rs73096846
Chromosome Location	chr12:51174729-51174730
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51172815..51175519-chr12:51421774..51424420,2	MCF-7	breast:
2	chr12:51155325..51162343-chr12:51172009..51182370,14	MCF-7	breast:
3	chr12:51156141..51159167-chr12:51172067..51175180,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction
ENSG00000110911	Chromatin interaction

Extended variants
information (count: 58 )
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	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876080	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876081	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876090	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10876094	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876095	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876096	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876097	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[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];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169552	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169554	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169560	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169561	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11615933	0.88[ASN][1000 genomes]
rs12424860	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12580479	0.83[ASN][1000 genomes]
rs12809086	0.80[AMR][1000 genomes]
rs1344958	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825402	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4026593	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4238108	0.80[AMR][1000 genomes]
rs4307773	0.94[ASN][1000 genomes]
rs4768866	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[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];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768921	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768922	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768923	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768924	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4768925	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4768940	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73094900	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv899077	chr12:51160612-51188397	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73096846	DIP2B	cis	Thyroid	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51159000-51175200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:51159000-51180200	Weak transcription	Esophagus	oesophagus
3	chr12:51159200-51179400	Weak transcription	Aorta	Aorta
4	chr12:51159200-51192600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:51159400-51192600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:51159600-51189200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:51159800-51176200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:51159800-51178200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:51159800-51178400	Weak transcription	NHDF-Ad	bronchial
10	chr12:51159800-51180600	Weak transcription	Fetal Lung	lung
11	chr12:51159800-51189600	Weak transcription	Spleen	Spleen
12	chr12:51159800-51190400	Weak transcription	Fetal Kidney	kidney
13	chr12:51159800-51191200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:51160000-51174800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:51160000-51174800	Weak transcription	Osteobl	bone
16	chr12:51160000-51175000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:51160000-51179200	Weak transcription	HSMMtube	muscle
18	chr12:51160000-51179800	Weak transcription	Small Intestine	intestine
19	chr12:51160000-51189800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:51160000-51190800	Weak transcription	Right Ventricle	heart
21	chr12:51160200-51175000	Weak transcription	Brain Anterior Caudate	brain
22	chr12:51160200-51178200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:51160200-51178400	Weak transcription	HMEC	breast
24	chr12:51160200-51179400	Weak transcription	Right Atrium	heart
25	chr12:51160200-51180200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:51160200-51189600	Weak transcription	Pancreas	Pancrea
27	chr12:51160200-51189800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr12:51160600-51178200	Weak transcription	Psoas Muscle	Psoas
29	chr12:51160800-51174800	Weak transcription	Liver	Liver
30	chr12:51160800-51189600	Weak transcription	Brain Angular Gyrus	brain
31	chr12:51160800-51190600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr12:51161000-51175200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:51161000-51178200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:51161000-51189800	Weak transcription	Ovary	ovary
35	chr12:51161600-51175200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:51161800-51180400	Weak transcription	Colonic Mucosa	Colon
37	chr12:51162400-51179200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:51162600-51175200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:51162600-51178800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:51163000-51178000	Weak transcription	A549	lung
41	chr12:51163000-51178400	Weak transcription	NHEK	skin
42	chr12:51163200-51175600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr12:51163200-51179800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr12:51163400-51175000	Weak transcription	K562	blood
45	chr12:51164000-51174800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr12:51164400-51189600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:51165200-51179200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr12:51165400-51175000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:51165400-51177000	Weak transcription	Dnd41	blood
50	chr12:51165400-51179800	Weak transcription	Brain Germinal Matrix	brain

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