Variant report

Variant	rs7306213
Chromosome Location	chr12:50520841-50520842
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50519576..50522320-chr12:50527262..50529699,2	K562	blood:
2	chr12:50481941..50484070-chr12:50519129..50521598,2	MCF-7	breast:
3	chr12:50503355..50506144-chr12:50519639..50521330,2	K562	blood:
4	chr12:50513121..50517277-chr12:50517671..50521204,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139624	Chromatin interaction
ENSG00000066117	Chromatin interaction
ENSG00000178449	Chromatin interaction
ENSG00000272368	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10735822	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10735823	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10747571	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10783334	0.83[EUR][1000 genomes]
rs10783336	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10783337	0.85[EUR][1000 genomes]
rs10783339	0.87[EUR][1000 genomes]
rs10875999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876001	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10876002	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876004	0.82[EUR][1000 genomes]
rs10876006	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10876007	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11169275	0.82[EUR][1000 genomes]
rs11169283	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169284	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169285	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12229758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314572	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17124448	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2008537	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2242507	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2277355	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55639096	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56151073	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131794	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7297864	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7314598	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316344	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7486874	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7953174	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv558840	chr12:50449976-50523964	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 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	chr12:50506800-50521000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:50506800-50523600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:50507000-50522400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:50507000-50522800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr12:50507000-50522800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:50507000-50523600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:50507000-50537400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:50507000-50539600	Weak transcription	Stomach Mucosa	stomach
9	chr12:50507200-50521400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:50507200-50522600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:50507200-50523600	Weak transcription	Right Atrium	heart
12	chr12:50507200-50532000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:50509400-50521600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr12:50509400-50522600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr12:50510800-50523800	Weak transcription	Psoas Muscle	Psoas
16	chr12:50510800-50528400	Strong transcription	Liver	Liver
17	chr12:50511200-50538200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:50511400-50538600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:50512600-50522800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:50512600-50529200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:50512600-50538200	Strong transcription	Primary B cells from cord blood	blood
22	chr12:50513000-50522200	Strong transcription	Stomach Smooth Muscle	stomach
23	chr12:50513200-50521200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:50514200-50522800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:50514800-50523600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:50515000-50521200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:50515400-50521200	Weak transcription	HSMMtube	muscle
28	chr12:50515400-50522400	Weak transcription	K562	blood
29	chr12:50515600-50523800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:50515800-50523600	Weak transcription	HepG2	liver
31	chr12:50515800-50523800	Weak transcription	Fetal Brain Male	brain
32	chr12:50516000-50532400	Strong transcription	Duodenum Mucosa	Duodenum
33	chr12:50516600-50536200	Strong transcription	Fetal Intestine Large	intestine
34	chr12:50517600-50523000	Weak transcription	Fetal Brain Female	brain
35	chr12:50517600-50548000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:50518000-50521000	Weak transcription	Gastric	stomach
37	chr12:50518000-50521000	Weak transcription	Left Ventricle	heart
38	chr12:50518000-50521400	Weak transcription	Right Ventricle	heart
39	chr12:50518000-50522600	Weak transcription	Small Intestine	intestine
40	chr12:50518000-50523600	Weak transcription	Esophagus	oesophagus
41	chr12:50518000-50532400	Strong transcription	HSMM	muscle
42	chr12:50518400-50521000	Weak transcription	Brain Angular Gyrus	brain
43	chr12:50518400-50521000	Weak transcription	Placenta	Placenta
44	chr12:50518400-50521000	Weak transcription	A549	lung
45	chr12:50518600-50521000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:50518600-50522600	Weak transcription	Hela-S3	cervix
47	chr12:50518800-50521200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr12:50519200-50524000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:50519200-50538200	Strong transcription	Fetal Muscle Leg	muscle
50	chr12:50519400-50521000	Weak transcription	Rectal Mucosa Donor 31	rectum

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