Variant report

Variant	rs61954374
Chromosome Location	chr12:122743755-122743756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122741155..122746045-chr12:122747830..122753372,6	K562	blood:
2	chr12:122729544..122731593-chr12:122743294..122745902,2	MCF-7	breast:
3	chr12:122743004..122745567-chr12:122747248..122750605,3	MCF-7	breast:
4	chr12:122710328..122713319-chr12:122741601..122745719,3	MCF-7	breast:
5	chr12:122742085..122744429-chr12:123010192..123012365,2	MCF-7	breast:
6	chr12:122742561..122745689-chr12:122748001..122751199,3	K562	blood:

Variant related genes	Relation type
ENSG00000256861	Chromatin interaction
ENSG00000184047	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000139719	Chromatin interaction
ENSG00000184445	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	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11061368	1.00[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	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882581	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2089887	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35422129	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58134429	0.88[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	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954365	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954366	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954367	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954368	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61954369	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954370	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954371	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61954376	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954377	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954378	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61954381	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954382	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954383	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954393	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954394	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954395	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954397	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61955587	0.87[AMR][1000 genomes]
rs61955588	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61955589	1.00[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	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7953290	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964780	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7968764	1.00[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	0.88[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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122711800-122749600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:122711800-122749600	Weak transcription	Psoas Muscle	Psoas
3	chr12:122712400-122748600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr12:122713800-122748800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr12:122716000-122749600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:122716000-122750200	Weak transcription	Fetal Kidney	kidney
7	chr12:122717200-122750000	Weak transcription	Fetal Heart	heart
8	chr12:122719000-122745400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:122720600-122750000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:122720600-122750200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:122721600-122750400	Weak transcription	Small Intestine	intestine
12	chr12:122722000-122750200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:122730600-122749600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:122730800-122748800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:122731000-122746800	Strong transcription	Fetal Intestine Small	intestine
16	chr12:122731200-122748200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:122731400-122748600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:122731800-122748200	Strong transcription	Fetal Intestine Large	intestine
19	chr12:122731800-122748600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr12:122731800-122748800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:122732200-122748200	Strong transcription	Fetal Stomach	stomach
22	chr12:122732400-122748200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:122732600-122747800	Strong transcription	Thymus	Thymus
24	chr12:122732800-122748600	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:122733400-122745800	Weak transcription	Right Ventricle	heart
26	chr12:122733400-122749600	Weak transcription	Colonic Mucosa	Colon
27	chr12:122733400-122750000	Weak transcription	HSMMtube	muscle
28	chr12:122733600-122744000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:122733600-122749600	Weak transcription	HMEC	breast
30	chr12:122734200-122749600	Weak transcription	HepG2	liver
31	chr12:122734600-122744000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:122735200-122748400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:122735400-122744200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:122735400-122744600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:122735400-122744600	Weak transcription	NH-A	brain
36	chr12:122735400-122749000	Weak transcription	Fetal Brain Male	brain
37	chr12:122735400-122749600	Weak transcription	Stomach Mucosa	stomach
38	chr12:122735400-122750000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr12:122735600-122745400	Weak transcription	Esophagus	oesophagus
40	chr12:122735600-122745800	Weak transcription	NHEK	skin
41	chr12:122735800-122744600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr12:122735800-122747200	Weak transcription	NHLF	lung
43	chr12:122736000-122744200	Weak transcription	Fetal Lung	lung
44	chr12:122736200-122745800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr12:122737000-122747400	Strong transcription	Duodenum Mucosa	Duodenum
46	chr12:122737000-122748600	Strong transcription	Primary T cells from cord blood	blood
47	chr12:122737000-122748600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr12:122737000-122748600	Strong transcription	Fetal Thymus	thymus
49	chr12:122737000-122748800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:122737200-122748800	Strong transcription	Primary B cells from peripheral blood	blood

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