Variant report

Variant	rs12123970
Chromosome Location	chr1:193021022-193021023
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193020432..193024562-chr1:193089724..193092274,3	MCF-7	breast:
2	chr1:193013109..193015911-chr1:193020850..193022567,3	MCF-7	breast:
3	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
4	chr1:193018810..193043703-chr1:193079188..193098601,93	K562	blood:
5	chr1:193020543..193025995-chr1:193071857..193075742,5	K562	blood:

Variant related genes	Relation type
ENSG00000134371	Chromatin interaction
ENSG00000023572	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10489686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10494675	1.00[CEU][hapmap]
rs10801170	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10801186	1.00[CEU][hapmap]
rs10921331	1.00[AFR][1000 genomes]
rs12118724	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12119992	1.00[CEU][hapmap]
rs12122868	1.00[CEU][hapmap]
rs12123511	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12123750	1.00[CEU][hapmap]
rs12129832	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12132305	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12134846	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12135148	1.00[CEU][hapmap]
rs12135670	1.00[CEU][hapmap]
rs12136893	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12141029	1.00[CEU][hapmap]
rs12145101	0.85[CEU][hapmap]
rs12145609	1.00[AFR][1000 genomes]
rs1325196	1.00[CEU][hapmap]
rs17526825	1.00[CEU][hapmap]
rs17592121	1.00[CEU][hapmap]
rs17593120	1.00[CEU][hapmap]
rs17593414	1.00[AFR][1000 genomes]
rs2887640	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28930673	1.00[CEU][hapmap]
rs28930674	1.00[CEU][hapmap]
rs35221108	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56022114	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6670264	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6682904	1.00[CEU][hapmap]
rs6685991	1.00[AFR][1000 genomes]
rs72738588	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72738589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72738599	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740243	1.00[AFR][1000 genomes]
rs72740246	1.00[AFR][1000 genomes]
rs7544830	0.86[EUR][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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv998429	chr1:192961698-193050515	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192979200-193025600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:192981400-193026200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:192983200-193023600	Weak transcription	Psoas Muscle	Psoas
4	chr1:192983200-193027800	Weak transcription	Aorta	Aorta
5	chr1:192984200-193026600	Weak transcription	NHLF	lung
6	chr1:192984400-193026400	Weak transcription	HUVEC	blood vessel
7	chr1:192984800-193025800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:192987400-193026200	Weak transcription	Fetal Kidney	kidney
9	chr1:192998800-193026200	Weak transcription	NHDF-Ad	bronchial
10	chr1:193006400-193023800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:193011000-193027800	Weak transcription	Small Intestine	intestine
12	chr1:193011400-193026400	Weak transcription	Brain Angular Gyrus	brain
13	chr1:193011400-193027000	Weak transcription	Brain Anterior Caudate	brain
14	chr1:193011600-193027000	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:193012000-193026400	Weak transcription	Fetal Heart	heart
16	chr1:193012000-193027600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:193012200-193026800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:193012400-193027400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:193012600-193022400	Strong transcription	Hela-S3	cervix
20	chr1:193012600-193026600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:193012600-193027600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:193012800-193023600	Weak transcription	Right Ventricle	heart
23	chr1:193013200-193026800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:193013200-193027400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:193013600-193026400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:193013800-193026600	Weak transcription	Fetal Brain Female	brain
27	chr1:193014800-193027200	Weak transcription	Brain Germinal Matrix	brain
28	chr1:193015000-193022000	Strong transcription	K562	blood
29	chr1:193015400-193027600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:193016000-193027600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:193018000-193026600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:193018000-193026600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr1:193018200-193023400	Weak transcription	Pancreas	Pancrea
34	chr1:193018200-193023600	Weak transcription	A549	lung
35	chr1:193018600-193023600	Weak transcription	Gastric	stomach
36	chr1:193018600-193023600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:193018600-193027000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:193018600-193027000	Weak transcription	Primary B cells from cord blood	blood
39	chr1:193018600-193027000	Weak transcription	Lung	lung
40	chr1:193018600-193027000	Weak transcription	Spleen	Spleen
41	chr1:193018600-193027200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:193018800-193021800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr1:193019000-193022400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:193019000-193023400	Weak transcription	GM12878-XiMat	blood
45	chr1:193019000-193023400	Weak transcription	HMEC	breast
46	chr1:193019000-193026200	Weak transcription	HSMMtube	muscle
47	chr1:193019000-193026400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:193019000-193026400	Weak transcription	Fetal Lung	lung
49	chr1:193019000-193026400	Weak transcription	NH-A	brain
50	chr1:193019000-193027200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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