Variant report

Variant	rs61954369
Chromosome Location	chr12:122730725-122730726
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122708212..122711575-chr12:122728870..122731258,3	MCF-7	breast:
2	chr12:122729544..122731593-chr12:122743294..122745902,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184047	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	0.80[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	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954366	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954367	1.00[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]
rs61954370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954371	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61954374	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954376	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954377	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	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7953290	0.83[AFR][1000 genomes];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	chr12:122711400-122734200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:122711800-122734400	Weak transcription	Stomach Mucosa	stomach
3	chr12:122711800-122734800	Weak transcription	Fetal Brain Male	brain
4	chr12:122711800-122749600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:122711800-122749600	Weak transcription	Psoas Muscle	Psoas
6	chr12:122712200-122730800	Strong transcription	Fetal Muscle Trunk	muscle
7	chr12:122712400-122748600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr12:122713800-122730800	Strong transcription	Adipose Nuclei	Adipose
9	chr12:122713800-122731000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:122713800-122731000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:122713800-122748800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr12:122716000-122749600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:122716000-122750200	Weak transcription	Fetal Kidney	kidney
14	chr12:122717200-122750000	Weak transcription	Fetal Heart	heart
15	chr12:122719000-122745400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:122719600-122735000	Weak transcription	NHLF	lung
17	chr12:122720400-122734800	Weak transcription	NHEK	skin
18	chr12:122720600-122732200	Weak transcription	HUVEC	blood vessel
19	chr12:122720600-122732600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:122720600-122733000	Weak transcription	A549	lung
21	chr12:122720600-122734000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:122720600-122750000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:122720600-122750200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:122721600-122732600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:122721600-122750400	Weak transcription	Small Intestine	intestine
26	chr12:122722000-122732200	Weak transcription	HSMM	muscle
27	chr12:122722000-122732600	Weak transcription	Pancreas	Pancrea
28	chr12:122722000-122741000	Weak transcription	Brain Substantia Nigra	brain
29	chr12:122722000-122750200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:122722600-122734400	Weak transcription	Osteobl	bone
31	chr12:122723000-122735800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr12:122723600-122734200	Weak transcription	NHDF-Ad	bronchial
33	chr12:122723800-122733200	Weak transcription	HMEC	breast
34	chr12:122723800-122734200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:122724000-122734000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:122724600-122732800	Weak transcription	HSMMtube	muscle
37	chr12:122725200-122732600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:122726800-122734800	Weak transcription	Aorta	Aorta
39	chr12:122727000-122732400	Weak transcription	Gastric	stomach
40	chr12:122727000-122732600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr12:122727000-122732800	Weak transcription	Brain Angular Gyrus	brain
42	chr12:122727000-122733000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:122727000-122734400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:122727600-122732600	Weak transcription	Colonic Mucosa	Colon
45	chr12:122728000-122730800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:122728000-122731800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:122728000-122732400	Weak transcription	Fetal Lung	lung
48	chr12:122728200-122732200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:122728400-122732800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:122728400-122732800	Weak transcription	Colon Smooth Muscle	Colon

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