Variant report

Variant	rs73411916
Chromosome Location	chr12:121208238-121208239
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:121208236-121208617	GM12878	blood:	n/a	n/a
2	GATA2	chr12:121208127-121208452	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121123033..121125000-chr12:121205934..121208435,2	K562	blood:

Variant related genes	Relation type
SPPL3	TF binding region
ENSG00000110917	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1055059	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10849777	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10849797	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065179	1.00[ASN][1000 genomes]
rs11065201	1.00[ASN][1000 genomes]
rs11065207	1.00[ASN][1000 genomes]
rs11065210	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065213	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065222	0.83[AMR][1000 genomes]
rs11065226	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065227	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065228	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065253	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065254	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065258	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065260	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065263	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11065267	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065275	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065279	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065281	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11065285	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065288	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065291	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065294	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065308	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065309	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065315	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065318	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065326	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065328	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065334	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065347	1.00[ASN][1000 genomes]
rs11065353	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]
rs1186042	1.00[ASN][1000 genomes]
rs12366451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368617	1.00[ASN][1000 genomes]
rs12370534	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1696358	1.00[ASN][1000 genomes]
rs1718207	1.00[ASN][1000 genomes]
rs1732397	1.00[ASN][1000 genomes]
rs1732399	1.00[ASN][1000 genomes]
rs2454728	1.00[ASN][1000 genomes]
rs2701179	1.00[ASN][1000 genomes]
rs497457	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs498255	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs513940	1.00[ASN][1000 genomes]
rs515784	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs519785	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530162	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs554197	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572009	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs574993	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581197	1.00[ASN][1000 genomes]
rs581515	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs582678	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590556	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591489	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59818945	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61108232	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61414515	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61624288	1.00[ASN][1000 genomes]
rs627211	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639343	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645661	1.00[ASN][1000 genomes]
rs645786	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647336	1.00[ASN][1000 genomes]
rs648262	1.00[ASN][1000 genomes]
rs651156	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs660878	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671815	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708784	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708788	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409953	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73413866	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73413874	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7960932	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	nsv1041153	chr12:121171986-121208826	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv976761	chr12:121202272-121210985	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 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	chr12:121196800-121212800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr12:121197200-121210000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:121197400-121209800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:121197400-121212600	Strong transcription	Thymus	Thymus
5	chr12:121197400-121220000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:121197600-121210400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:121197800-121209000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:121197800-121212400	Strong transcription	Liver	Liver
9	chr12:121197800-121220400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:121198000-121212000	Strong transcription	Adipose Nuclei	Adipose
11	chr12:121198200-121211400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:121198400-121209800	Strong transcription	Dnd41	blood
13	chr12:121198400-121212200	Strong transcription	Primary B cells from cord blood	blood
14	chr12:121198400-121220800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr12:121198600-121209200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:121198800-121209000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:121199000-121211600	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr12:121199200-121209600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:121199800-121211400	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr12:121199800-121211800	Weak transcription	Right Atrium	heart
21	chr12:121200200-121213000	Strong transcription	Fetal Stomach	stomach
22	chr12:121200400-121209800	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:121200400-121210000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:121200600-121210000	Strong transcription	Esophagus	oesophagus
25	chr12:121200600-121211200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:121200600-121222600	Strong transcription	Fetal Muscle Trunk	muscle
27	chr12:121201000-121211800	Weak transcription	Fetal Heart	heart
28	chr12:121201000-121212000	Strong transcription	Fetal Muscle Leg	muscle
29	chr12:121201000-121212600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:121201200-121217600	Strong transcription	Primary T cells from cord blood	blood
31	chr12:121201400-121209400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:121204400-121220200	Weak transcription	NHDF-Ad	bronchial
33	chr12:121204800-121211800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:121204800-121212000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr12:121204800-121213800	Strong transcription	Fetal Intestine Large	intestine
36	chr12:121205200-121208800	Strong transcription	Duodenum Mucosa	Duodenum
37	chr12:121205200-121221000	Weak transcription	Stomach Mucosa	stomach
38	chr12:121205600-121211200	Weak transcription	Psoas Muscle	Psoas
39	chr12:121205600-121212600	Strong transcription	Placenta	Placenta
40	chr12:121205600-121213800	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr12:121206000-121219400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr12:121206200-121209000	Strong transcription	Lung	lung
43	chr12:121206200-121238600	Weak transcription	Small Intestine	intestine
44	chr12:121206400-121211800	Weak transcription	HUVEC	blood vessel
45	chr12:121206400-121213400	Strong transcription	Fetal Intestine Small	intestine
46	chr12:121206600-121219800	Weak transcription	Fetal Brain Male	brain
47	chr12:121206600-121220400	Weak transcription	NH-A	brain
48	chr12:121206600-121220600	Weak transcription	NHLF	lung
49	chr12:121206800-121208400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr12:121206800-121208800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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