Variant report

Variant	rs2723850
Chromosome Location	chr12:104384279-104384280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104383417..104385219-chr12:104388267..104391662,3	K562	blood:
2	chr12:104384261..104388673-chr12:104456948..104460032,3	K562	blood:
3	chr12:104382759..104385479-chr12:104389047..104390851,2	MCF-7	breast:
4	chr12:104374585..104376211-chr12:104383333..104385407,2	K562	blood:
5	chr12:104383661..104385845-chr12:104680601..104682112,2	K562	blood:
6	chr12:104371533..104374205-chr12:104383696..104386140,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120820	Chromatin interaction
ENSG00000111727	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11111861	1.00[ASN][1000 genomes]
rs1125322	1.00[ASN][1000 genomes]
rs11611650	1.00[ASN][1000 genomes]
rs1165672	1.00[ASN][1000 genomes]
rs12825687	1.00[ASN][1000 genomes]
rs1385663	1.00[ASN][1000 genomes]
rs167715	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs167716	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882018	1.00[ASN][1000 genomes]
rs2204802	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2243680	1.00[ASN][1000 genomes]
rs2248995	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251215	1.00[ASN][1000 genomes]
rs2252213	1.00[ASN][1000 genomes]
rs2374327	1.00[ASN][1000 genomes]
rs2439621	1.00[ASN][1000 genomes]
rs2576943	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583224	1.00[ASN][1000 genomes]
rs2583225	1.00[ASN][1000 genomes]
rs2583233	1.00[ASN][1000 genomes]
rs2583234	1.00[ASN][1000 genomes]
rs2583237	1.00[ASN][1000 genomes]
rs2583244	1.00[ASN][1000 genomes]
rs2583258	1.00[ASN][1000 genomes]
rs2583274	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583278	1.00[ASN][1000 genomes]
rs2629750	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700494	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700507	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700517	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722177	1.00[ASN][1000 genomes]
rs2722180	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722194	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2723849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2723853	1.00[ASN][1000 genomes]
rs2723877	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs322104	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322109	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35140616	1.00[ASN][1000 genomes]
rs4135039	1.00[ASN][1000 genomes]
rs4135040	1.00[ASN][1000 genomes]
rs4135047	1.00[ASN][1000 genomes]
rs4135048	1.00[ASN][1000 genomes]
rs4135050	1.00[ASN][1000 genomes]
rs4135061	1.00[ASN][1000 genomes]
rs4135062	1.00[ASN][1000 genomes]
rs4135066	1.00[ASN][1000 genomes]
rs784080	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs784084	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931306	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104361600-104385000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:104362000-104384400	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:104362000-104392800	Weak transcription	Fetal Brain Male	brain
4	chr12:104362200-104384800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:104370200-104384600	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:104370400-104385000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:104370400-104385600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:104370600-104385000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:104372800-104384800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:104373600-104384800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:104376800-104386200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:104377800-104390200	Weak transcription	Fetal Heart	heart
13	chr12:104377800-104391000	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:104377800-104400200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:104379400-104385800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:104379600-104386200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:104379600-104387000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:104379800-104386200	Weak transcription	NHDF-Ad	bronchial
19	chr12:104380200-104386200	Weak transcription	Small Intestine	intestine
20	chr12:104380600-104385400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:104380600-104388000	Weak transcription	NHEK	skin
22	chr12:104380800-104385000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:104380800-104386000	Weak transcription	Colonic Mucosa	Colon
24	chr12:104380800-104386400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:104380800-104386400	Weak transcription	Fetal Stomach	stomach
26	chr12:104380800-104386600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:104380800-104387000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:104380800-104387200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:104380800-104387200	Weak transcription	Brain Hippocampus Middle	brain
30	chr12:104380800-104387800	Weak transcription	HSMMtube	muscle
31	chr12:104380800-104388200	Weak transcription	Psoas Muscle	Psoas
32	chr12:104380800-104391400	Weak transcription	Ovary	ovary
33	chr12:104380800-104395600	Weak transcription	Aorta	Aorta
34	chr12:104380800-104400200	Weak transcription	NHLF	lung
35	chr12:104381000-104384800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:104381000-104384800	Weak transcription	Brain Substantia Nigra	brain
37	chr12:104381000-104384800	Weak transcription	Pancreas	Pancrea
38	chr12:104381000-104385000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:104381000-104385000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr12:104381000-104385000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:104381000-104385000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:104381000-104385000	Weak transcription	Fetal Muscle Leg	muscle
43	chr12:104381000-104385800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr12:104381000-104386000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr12:104381000-104386000	Weak transcription	Fetal Brain Female	brain
46	chr12:104381000-104386000	Weak transcription	HepG2	liver
47	chr12:104381000-104386400	Weak transcription	Fetal Kidney	kidney
48	chr12:104381000-104386600	Weak transcription	Brain Anterior Caudate	brain
49	chr12:104381000-104386600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr12:104381000-104387000	Weak transcription	Primary hematopoietic stem cells	blood

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