Variant report

Variant	rs73409953
Chromosome Location	chr12:121161493-121161494
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120729375..120731716-chr12:121159185..121161541,3	K562	blood:
2	chr12:121146305..121152610-chr12:121160959..121168394,8	MCF-7	breast:
3	chr12:121159870..121162504-chr12:121416031..121417915,2	K562	blood:

Variant related genes	Relation type
ENSG00000175970	Chromatin interaction
ENSG00000241388	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000135100	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1055059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849797	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065179	1.00[ASN][1000 genomes]
rs11065201	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065207	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065210	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065213	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065222	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11065226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065227	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065228	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065253	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065254	1.00[ASN][1000 genomes]
rs11065258	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065260	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065267	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065275	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065279	1.00[ASN][1000 genomes]
rs11065281	0.83[AMR][1000 genomes]
rs11065285	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065288	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065291	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065294	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065308	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065309	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065315	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065318	1.00[ASN][1000 genomes]
rs11065326	1.00[ASN][1000 genomes]
rs11065328	1.00[ASN][1000 genomes]
rs1151854	1.00[ASN][1000 genomes]
rs1151855	1.00[ASN][1000 genomes]
rs1151860	1.00[ASN][1000 genomes]
rs1151865	1.00[ASN][1000 genomes]
rs12366451	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12368617	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12370534	1.00[ASN][1000 genomes]
rs1696358	1.00[ASN][1000 genomes]
rs1718207	1.00[ASN][1000 genomes]
rs1732399	1.00[ASN][1000 genomes]
rs2454728	1.00[ASN][1000 genomes]
rs497457	1.00[ASN][1000 genomes]
rs498255	1.00[ASN][1000 genomes]
rs513940	1.00[ASN][1000 genomes]
rs515784	1.00[ASN][1000 genomes]
rs519785	1.00[ASN][1000 genomes]
rs530162	1.00[ASN][1000 genomes]
rs554197	1.00[ASN][1000 genomes]
rs572009	1.00[ASN][1000 genomes]
rs574993	1.00[ASN][1000 genomes]
rs581197	1.00[ASN][1000 genomes]
rs581515	1.00[ASN][1000 genomes]
rs582678	1.00[ASN][1000 genomes]
rs590556	1.00[ASN][1000 genomes]
rs591489	1.00[ASN][1000 genomes]
rs59818945	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61108232	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61414515	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61624288	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs627211	1.00[ASN][1000 genomes]
rs639343	1.00[ASN][1000 genomes]
rs645661	1.00[ASN][1000 genomes]
rs645786	1.00[ASN][1000 genomes]
rs647336	1.00[ASN][1000 genomes]
rs648262	1.00[ASN][1000 genomes]
rs651156	1.00[ASN][1000 genomes]
rs660878	1.00[ASN][1000 genomes]
rs671815	1.00[ASN][1000 genomes]
rs708784	1.00[ASN][1000 genomes]
rs708788	1.00[ASN][1000 genomes]
rs73411916	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73413866	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73413874	0.83[AMR][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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 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	chr12:121149800-121162800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:121150000-121163000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:121150400-121161600	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:121150400-121163200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:121150800-121162400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:121150800-121162400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:121151000-121161800	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:121151000-121161800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:121151000-121162200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:121151000-121163000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:121151200-121161600	Strong transcription	Ovary	ovary
12	chr12:121151200-121161800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:121151200-121162000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:121151200-121162200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:121151200-121162200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:121151200-121162200	Strong transcription	Brain Anterior Caudate	brain
17	chr12:121151200-121162200	Strong transcription	Fetal Thymus	thymus
18	chr12:121151200-121162400	Strong transcription	Fetal Muscle Trunk	muscle
19	chr12:121151200-121162600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:121151200-121162600	Strong transcription	Fetal Stomach	stomach
21	chr12:121151200-121163000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:121151400-121163600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:121151800-121162200	Strong transcription	Left Ventricle	heart
24	chr12:121151800-121162400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:121151800-121162600	Strong transcription	Fetal Lung	lung
26	chr12:121151800-121162600	Strong transcription	Placenta	Placenta
27	chr12:121152000-121161600	Strong transcription	Brain Germinal Matrix	brain
28	chr12:121152000-121161600	Strong transcription	Colon Smooth Muscle	Colon
29	chr12:121152200-121161600	Strong transcription	Thymus	Thymus
30	chr12:121152200-121161600	Strong transcription	Dnd41	blood
31	chr12:121152200-121162000	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:121152200-121162200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:121152400-121161600	Strong transcription	Primary T cells from cord blood	blood
34	chr12:121152400-121161600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr12:121153800-121161600	Strong transcription	Fetal Brain Female	brain
36	chr12:121155000-121162600	Weak transcription	Fetal Heart	heart
37	chr12:121157200-121162800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr12:121157600-121163000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:121158000-121161600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr12:121158200-121162600	Weak transcription	Fetal Brain Male	brain
41	chr12:121158200-121163000	Weak transcription	Stomach Mucosa	stomach
42	chr12:121158400-121162600	Strong transcription	A549	lung
43	chr12:121158400-121163200	Weak transcription	Psoas Muscle	Psoas
44	chr12:121158400-121163600	Weak transcription	Small Intestine	intestine
45	chr12:121158600-121162200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:121158600-121163000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr12:121158800-121161600	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr12:121158800-121161600	Strong transcription	NHLF	lung
49	chr12:121158800-121161800	Strong transcription	NH-A	brain
50	chr12:121159000-121161800	Strong transcription	Muscle Satellite Cultured Cells	--

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