Variant report

Variant	rs61954393
Chromosome Location	chr12:122781393-122781394
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11057290	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11061368	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11836373	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12580043	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882581	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2089887	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35422129	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58134429	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60995900	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954363	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954365	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954366	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954367	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954368	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61954369	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954370	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954371	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61954374	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954376	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954377	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954378	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61954381	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954382	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954383	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954394	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954395	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954397	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61955587	0.82[AMR][1000 genomes]
rs61955588	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61955589	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7132789	0.95[EUR][1000 genomes]
rs7303975	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311354	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7953290	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964780	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7968764	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7979955	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs907485	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122751600-122803400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:122752000-122800600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:122752000-122802600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:122752400-122810400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:122754600-122822400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:122759000-122782200	Weak transcription	Right Ventricle	heart
7	chr12:122760200-122790400	Strong transcription	Placenta	Placenta
8	chr12:122763600-122781400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:122763600-122781800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:122763600-122781800	Weak transcription	Fetal Brain Male	brain
11	chr12:122763600-122781800	Weak transcription	Gastric	stomach
12	chr12:122763600-122781800	Weak transcription	Spleen	Spleen
13	chr12:122763600-122782000	Weak transcription	Colonic Mucosa	Colon
14	chr12:122763600-122782400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:122763600-122782800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:122763600-122785200	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:122763600-122785400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:122763600-122785400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:122763600-122787400	Weak transcription	Brain Angular Gyrus	brain
20	chr12:122763600-122792600	Weak transcription	Thymus	Thymus
21	chr12:122763600-122792800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:122763600-122812000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:122763800-122781600	Weak transcription	Small Intestine	intestine
24	chr12:122764000-122781800	Weak transcription	HepG2	liver
25	chr12:122765600-122781600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:122765600-122789800	Weak transcription	NHEK	skin
27	chr12:122765800-122782200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:122765800-122803400	Weak transcription	K562	blood
29	chr12:122766200-122782200	Weak transcription	Pancreas	Pancrea
30	chr12:122767000-122790000	Weak transcription	HMEC	breast
31	chr12:122770200-122821600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr12:122770400-122821800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:122770800-122782000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr12:122772000-122781800	Weak transcription	Aorta	Aorta
35	chr12:122772000-122781800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:122772200-122782200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:122772400-122781800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:122772400-122782000	Weak transcription	Brain Germinal Matrix	brain
39	chr12:122773200-122781400	Weak transcription	GM12878-XiMat	blood
40	chr12:122773200-122782200	Weak transcription	Brain Anterior Caudate	brain
41	chr12:122773400-122781400	Weak transcription	Dnd41	blood
42	chr12:122773400-122781800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:122774000-122782200	Weak transcription	Brain Substantia Nigra	brain
44	chr12:122775600-122800600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:122775600-122833600	Strong transcription	Liver	Liver
46	chr12:122775800-122791600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr12:122776000-122782200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:122776000-122822200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:122776600-122781400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:122776600-122782200	Weak transcription	NHLF	lung

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