Variant report

Variant	rs12626275
Chromosome Location	chr21:46211366-46211367
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46208115..46211415-chr21:46211594..46214545,4	MCF-7	breast:
2	chr21:46188637..46191346-chr21:46209977..46212870,2	MCF-7	breast:
3	chr21:46202815..46206353-chr21:46211210..46215151,6	K562	blood:
4	chr21:46207093..46209545-chr21:46210264..46213746,3	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17004701	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17526563	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2008604	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs235351	0.96[ASN][1000 genomes]
rs235362	0.96[ASN][1000 genomes]
rs235363	0.96[ASN][1000 genomes]
rs2838672	0.85[ASN][1000 genomes]
rs2838682	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838684	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838685	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838694	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2838696	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35627976	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56357729	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7283211	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7283639	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73232962	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73232966	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9647228	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12626275	PTTG1IP	cis	lung	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46187000-46213000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr21:46189000-46221000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr21:46193400-46212600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr21:46193800-46212800	Weak transcription	Psoas Muscle	Psoas
5	chr21:46195000-46212600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr21:46195000-46219800	Weak transcription	Small Intestine	intestine
7	chr21:46195400-46220400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr21:46195600-46211400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr21:46196000-46211800	Weak transcription	NHLF	lung
10	chr21:46197200-46213000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr21:46197200-46220400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr21:46197400-46212800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr21:46198600-46212000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr21:46198800-46211400	Weak transcription	HUVEC	blood vessel
15	chr21:46198800-46213000	Weak transcription	Brain Angular Gyrus	brain
16	chr21:46198800-46219600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr21:46198800-46220000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr21:46198800-46220000	Weak transcription	Fetal Kidney	kidney
19	chr21:46200000-46220400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr21:46200400-46212800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr21:46200400-46218200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr21:46200600-46212800	Weak transcription	Colon Smooth Muscle	Colon
23	chr21:46201200-46220400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:46201600-46212600	Weak transcription	Gastric	stomach
25	chr21:46201600-46212800	Weak transcription	Right Atrium	heart
26	chr21:46201600-46212800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr21:46202400-46219200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr21:46203400-46220000	Weak transcription	Fetal Brain Female	brain
29	chr21:46204000-46212600	Weak transcription	Ovary	ovary
30	chr21:46205000-46211600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr21:46205200-46212000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr21:46205200-46212200	Weak transcription	Spleen	Spleen
33	chr21:46205200-46213000	Weak transcription	Brain Substantia Nigra	brain
34	chr21:46205200-46213000	Weak transcription	Left Ventricle	heart
35	chr21:46205200-46213200	Weak transcription	Esophagus	oesophagus
36	chr21:46205200-46220400	Weak transcription	Aorta	Aorta
37	chr21:46205200-46220800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr21:46205400-46212800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr21:46205600-46211800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr21:46205600-46212600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr21:46205800-46211600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr21:46205800-46212800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr21:46206200-46212600	Weak transcription	Fetal Heart	heart
44	chr21:46206200-46212600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr21:46206200-46213000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr21:46206200-46216200	Weak transcription	Placenta	Placenta
47	chr21:46206200-46218400	Weak transcription	Brain Anterior Caudate	brain
48	chr21:46206200-46219800	Weak transcription	Right Ventricle	heart
49	chr21:46206200-46220000	Weak transcription	Brain Germinal Matrix	brain
50	chr21:46206400-46211400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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