Variant report

Variant	rs7309410
Chromosome Location	chr12:50805243-50805244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50803668..50806425-chr12:50809332..50811405,2	K562	blood:
2	chr12:50804657..50806853-chr12:50839732..50842092,2	K562	blood:
3	chr12:50795980..50797892-chr12:50802971..50805412,2	MCF-7	breast:
4	chr12:50793377..50796191-chr12:50802408..50807418,5	K562	blood:

Variant related genes	Relation type
ENSG00000161813	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10083076	1.00[EUR][1000 genomes]
rs10431531	1.00[EUR][1000 genomes]
rs10431532	1.00[EUR][1000 genomes]
rs10431533	1.00[EUR][1000 genomes]
rs10732734	1.00[EUR][1000 genomes]
rs10747576	1.00[EUR][1000 genomes]
rs10747582	1.00[EUR][1000 genomes]
rs10783355	1.00[EUR][1000 genomes]
rs10783360	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10876029	1.00[EUR][1000 genomes]
rs10876040	1.00[EUR][1000 genomes]
rs11169464	1.00[EUR][1000 genomes]
rs12099439	1.00[AMR][1000 genomes]
rs12146806	1.00[EUR][1000 genomes]
rs12300290	1.00[EUR][1000 genomes]
rs12302812	1.00[EUR][1000 genomes]
rs12321739	1.00[AMR][1000 genomes]
rs12321891	1.00[EUR][1000 genomes]
rs12322925	1.00[EUR][1000 genomes]
rs12367373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2037453	1.00[EUR][1000 genomes]
rs2253376	1.00[EUR][1000 genomes]
rs2464125	1.00[EUR][1000 genomes]
rs2468378	1.00[EUR][1000 genomes]
rs2684895	1.00[EUR][1000 genomes]
rs2684896	1.00[EUR][1000 genomes]
rs2684897	1.00[EUR][1000 genomes]
rs2684904	1.00[EUR][1000 genomes]
rs2684905	1.00[EUR][1000 genomes]
rs2731437	1.00[EUR][1000 genomes]
rs2731438	1.00[EUR][1000 genomes]
rs2731445	1.00[EUR][1000 genomes]
rs2731448	1.00[EUR][1000 genomes]
rs4238103	1.00[EUR][1000 genomes]
rs4259895	1.00[EUR][1000 genomes]
rs4293196	1.00[EUR][1000 genomes]
rs4334109	1.00[EUR][1000 genomes]
rs4435082	1.00[EUR][1000 genomes]
rs4477515	1.00[EUR][1000 genomes]
rs4491331	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4590959	1.00[EUR][1000 genomes]
rs4617660	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4625558	1.00[EUR][1000 genomes]
rs4768854	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4768896	1.00[EUR][1000 genomes]
rs4768897	1.00[EUR][1000 genomes]
rs4768898	1.00[EUR][1000 genomes]
rs4768916	1.00[EUR][1000 genomes]
rs6421169	1.00[EUR][1000 genomes]
rs6580746	1.00[EUR][1000 genomes]
rs6580749	1.00[EUR][1000 genomes]
rs6580750	1.00[EUR][1000 genomes]
rs6580758	1.00[EUR][1000 genomes]
rs6580759	1.00[EUR][1000 genomes]
rs7133107	1.00[EUR][1000 genomes]
rs7295187	0.93[AFR][1000 genomes]
rs7296277	1.00[EUR][1000 genomes]
rs7302222	1.00[EUR][1000 genomes]
rs7304951	1.00[EUR][1000 genomes]
rs7305972	1.00[EUR][1000 genomes]
rs7309896	1.00[EUR][1000 genomes]
rs7310522	1.00[EUR][1000 genomes]
rs7310686	1.00[EUR][1000 genomes]
rs7312349	1.00[EUR][1000 genomes]
rs7313783	1.00[EUR][1000 genomes]
rs7314198	1.00[EUR][1000 genomes]
rs7954152	1.00[EUR][1000 genomes]
rs7963866	1.00[EUR][1000 genomes]
rs7964439	1.00[EUR][1000 genomes]
rs7966009	1.00[EUR][1000 genomes]
rs939634	1.00[EUR][1000 genomes]
rs9634263	1.00[EUR][1000 genomes]
rs9804978	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
2	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv1041563	chr12:50705715-50861699	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv899076	chr12:50770291-50869589	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
7	nsv469376	chr12:50792846-50856613	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
8	nsv558841	chr12:50792846-50856613	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
9	nsv470291	chr12:50792846-50858820	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50795400-50819400	Weak transcription	Spleen	Spleen
2	chr12:50796000-50809400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:50796000-50809600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:50796000-50812400	Weak transcription	Esophagus	oesophagus
5	chr12:50796000-50819400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:50796600-50809800	Weak transcription	Thymus	Thymus
7	chr12:50796800-50808400	Weak transcription	Fetal Thymus	thymus
8	chr12:50796800-50809600	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:50796800-50810000	Weak transcription	Aorta	Aorta
10	chr12:50796800-50823200	Weak transcription	HSMMtube	muscle
11	chr12:50796800-50824000	Weak transcription	Fetal Brain Female	brain
12	chr12:50796800-50832600	Weak transcription	Brain Substantia Nigra	brain
13	chr12:50797000-50807200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:50797000-50809600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:50797000-50809600	Weak transcription	Fetal Intestine Large	intestine
16	chr12:50797000-50809800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:50797000-50809800	Weak transcription	HSMM	muscle
18	chr12:50797000-50821800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr12:50797000-50822200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:50797000-50822600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:50797200-50806200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:50797200-50808000	Weak transcription	Primary T cells from cord blood	blood
23	chr12:50797200-50808000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:50797200-50809400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:50797200-50809800	Weak transcription	Colonic Mucosa	Colon
26	chr12:50797200-50810400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr12:50797200-50823800	Weak transcription	NH-A	brain
28	chr12:50797400-50806200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:50797400-50808000	Weak transcription	Primary B cells from cord blood	blood
30	chr12:50797400-50809800	Weak transcription	NHEK	skin
31	chr12:50797600-50806000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:50797600-50806200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr12:50797600-50808200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr12:50797600-50808200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr12:50797600-50808600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:50797600-50808800	Weak transcription	Right Ventricle	heart
37	chr12:50797600-50809000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:50797600-50809600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:50797600-50809600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:50797600-50809600	Weak transcription	Right Atrium	heart
41	chr12:50797600-50809800	Weak transcription	Ovary	ovary
42	chr12:50797600-50809800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr12:50797600-50809800	Weak transcription	NHLF	lung
44	chr12:50797600-50810000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:50797600-50810200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr12:50797600-50811200	Weak transcription	Fetal Heart	heart
47	chr12:50797600-50812000	Weak transcription	HMEC	breast
48	chr12:50797600-50815600	Weak transcription	Brain Germinal Matrix	brain
49	chr12:50797600-50822800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:50797600-50826200	Weak transcription	NHDF-Ad	bronchial

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