Variant report

Variant	rs7308893
Chromosome Location	chr12:46168430-46168431
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:46122427..46125740-chr12:46165750..46168434,3	K562	blood:
2	chr12:46166755..46169642-chr12:46247859..46249712,2	K562	blood:

Variant related genes	Relation type
ENSG00000189079	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10161001	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10161062	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10161510	1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10161536	0.91[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[YRI][hapmap]
rs10506264	0.93[YRI][hapmap]
rs10880858	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11183135	1.00[EUR][1000 genomes]
rs11183136	1.00[EUR][1000 genomes]
rs11183171	1.00[MEX][hapmap]
rs11183197	1.00[EUR][1000 genomes]
rs11183199	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11183202	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11183248	0.93[YRI][hapmap]
rs11574971	0.91[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[YRI][hapmap]
rs12296933	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12297214	0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12298597	1.00[EUR][1000 genomes]
rs12299715	1.00[EUR][1000 genomes]
rs12301665	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12302862	0.80[YRI][hapmap];1.00[EUR][1000 genomes]
rs12305110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12307979	0.80[YRI][hapmap]
rs12309988	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12312478	1.00[EUR][1000 genomes]
rs12316361	0.85[AMR][1000 genomes]
rs12316726	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321106	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28583490	1.00[EUR][1000 genomes]
rs4522236	1.00[EUR][1000 genomes]
rs55916269	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56338250	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58253063	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59340060	1.00[EUR][1000 genomes]
rs6582575	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7132585	1.00[EUR][1000 genomes]
rs7133123	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7296694	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7303119	1.00[CHD][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7308856	1.00[CHD][hapmap];1.00[MEX][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7309921	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7315365	1.00[EUR][1000 genomes]
rs74081382	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74081384	1.00[EUR][1000 genomes]
rs74081401	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74084208	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7953515	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7964495	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs7965539	1.00[YRI][hapmap]
rs7971936	1.00[CHD][hapmap]
rs7972650	1.00[CHD][hapmap];1.00[MEX][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs7973967	0.86[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7975170	1.00[CHD][hapmap];1.00[MEX][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7975408	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7977711	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899052	chr12:46068394-46175469	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
2	esv2758306	chr12:46149338-46349891	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv2759897	chr12:46149338-46349891	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv973961	chr12:46153815-46175394	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv832396	chr12:46155424-46310583	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	esv3502075	chr12:46160578-46175160	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3372521	chr12:46160588-46175158	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3502086	chr12:46160592-46175156	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46132000-46205200	Weak transcription	HSMM	muscle
2	chr12:46137400-46174400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:46149600-46215400	Weak transcription	Fetal Kidney	kidney
4	chr12:46151400-46168800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:46151400-46169800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:46156400-46169600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:46157400-46199600	Weak transcription	HepG2	liver
8	chr12:46161600-46168600	Weak transcription	Left Ventricle	heart
9	chr12:46161600-46169200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:46162600-46175200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:46162800-46170800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:46163000-46175400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:46163800-46169800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:46164400-46168800	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:46164400-46169600	Weak transcription	Brain Germinal Matrix	brain
16	chr12:46164400-46187800	Weak transcription	Fetal Thymus	thymus
17	chr12:46164400-46193600	Weak transcription	Fetal Stomach	stomach
18	chr12:46164600-46169000	Weak transcription	Fetal Intestine Small	intestine
19	chr12:46164600-46187800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:46164600-46187800	Weak transcription	GM12878-XiMat	blood
21	chr12:46164600-46193400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:46164600-46205200	Weak transcription	Dnd41	blood
23	chr12:46164600-46230000	Weak transcription	Thymus	Thymus
24	chr12:46164800-46168600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:46164800-46193200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:46165200-46187800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr12:46165400-46173200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:46165400-46176800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:46165600-46169200	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr12:46166200-46181200	Weak transcription	Hela-S3	cervix
31	chr12:46166600-46168600	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr12:46166600-46170000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:46166600-46170000	Enhancers	A549	lung
34	chr12:46166800-46199800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:46167000-46175000	Weak transcription	Primary B cells from cord blood	blood
36	chr12:46167600-46168600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:46167600-46168600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:46167600-46169000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr12:46167600-46169000	Enhancers	Fetal Lung	lung
40	chr12:46167600-46169000	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr12:46167600-46169200	Enhancers	Small Intestine	intestine
42	chr12:46167600-46169400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr12:46167600-46169400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:46167600-46169400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr12:46167600-46170000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr12:46167600-46170200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr12:46167600-46205200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr12:46168000-46168800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:46168000-46169800	Weak transcription	Liver	Liver
50	chr12:46168200-46168600	Enhancers	HUES64 Cell Line	embryonic stem cell

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