Variant report

Variant	rs61954376
Chromosome Location	chr12:122755248-122755249
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	chr12:122755210-122755350	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122748511..122753290-chr12:122753614..122757963,7	K562	blood:
2	chr12:122749589..122752606-chr12:122753889..122758742,5	K562	blood:
3	chr12:122754913..122757093-chr12:122761269..122764385,4	K562	blood:

Variant related genes	Relation type
VPS33A	TF binding region
ENSG00000256861	TF binding region
ENSG00000130779	Chromatin interaction
ENSG00000256861	Chromatin interaction
ENSG00000139719	Chromatin interaction

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

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

rs_ID	r²[population]
rs11057290	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11061368	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11836373	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12580043	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882581	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2089887	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35422129	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58134429	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60995900	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954363	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954365	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954366	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954367	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954368	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61954369	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954370	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954371	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61954374	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954377	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954378	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61954381	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954382	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954383	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954393	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954394	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954395	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954397	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61955587	0.82[AMR][1000 genomes]
rs61955588	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61955589	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7132789	0.91[EUR][1000 genomes]
rs7303975	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311354	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7953290	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964780	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7968764	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7979955	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs907485	0.94[AMR][1000 genomes];1.00[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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122751400-122757400	Weak transcription	Spleen	Spleen
2	chr12:122751600-122755800	Weak transcription	Lung	lung
3	chr12:122751600-122757200	Weak transcription	Gastric	stomach
4	chr12:122751600-122803400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:122751800-122755600	Weak transcription	Left Ventricle	heart
6	chr12:122751800-122757200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:122751800-122757200	Weak transcription	Ovary	ovary
8	chr12:122751800-122757400	Weak transcription	Esophagus	oesophagus
9	chr12:122751800-122757400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:122751800-122760400	Weak transcription	Pancreas	Pancrea
11	chr12:122751800-122760800	Weak transcription	Aorta	Aorta
12	chr12:122751800-122762800	Weak transcription	Psoas Muscle	Psoas
13	chr12:122751800-122762800	Weak transcription	Small Intestine	intestine
14	chr12:122752000-122755400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:122752000-122755400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:122752000-122755400	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:122752000-122755400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:122752000-122755400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:122752000-122755600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:122752000-122755600	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:122752000-122755800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:122752000-122755800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:122752000-122755800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:122752000-122755800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:122752000-122756000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:122752000-122756000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:122752000-122756000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:122752000-122756000	Weak transcription	Osteobl	bone
29	chr12:122752000-122756200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:122752000-122756200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:122752000-122756200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:122752000-122756200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:122752000-122756200	Weak transcription	A549	lung
34	chr12:122752000-122756200	Weak transcription	HSMM	muscle
35	chr12:122752000-122756600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:122752000-122756800	Weak transcription	Brain Angular Gyrus	brain
37	chr12:122752000-122756800	Weak transcription	Brain Anterior Caudate	brain
38	chr12:122752000-122756800	Weak transcription	Colonic Mucosa	Colon
39	chr12:122752000-122756800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:122752000-122756800	Weak transcription	Fetal Intestine Large	intestine
41	chr12:122752000-122756800	Weak transcription	NHDF-Ad	bronchial
42	chr12:122752000-122756800	Weak transcription	NHEK	skin
43	chr12:122752000-122757000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:122752000-122757000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:122752000-122757000	Weak transcription	Colon Smooth Muscle	Colon
46	chr12:122752000-122757000	Weak transcription	Fetal Brain Female	brain
47	chr12:122752000-122757000	Weak transcription	HSMMtube	muscle
48	chr12:122752000-122757200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:122752000-122757200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:122752000-122757200	Weak transcription	Primary hematopoietic stem cells	blood

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