Variant report

Variant	rs7968023
Chromosome Location	chr12:25402255-25402256
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	chr12:25400232..25401983-chr12:25402090..25403679,2	MCF-7	breast:
2	chr12:25346725..25349884-chr12:25402144..25405058,5	K562	blood:

Variant related genes	Relation type
ENSG00000118307	Chromatin interaction
ENSG00000205707	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10743548	0.85[EUR][1000 genomes]
rs10771183	0.85[EUR][1000 genomes]
rs10842515	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10842516	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10842517	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11047878	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11047879	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11047885	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11047903	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11047904	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11047912	0.97[ASN][1000 genomes]
rs11047914	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11047917	0.90[ASN][1000 genomes]
rs1137282	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11836509	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17388573	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17388587	0.97[ASN][1000 genomes]
rs17389103	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3924650	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4368021	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4606562	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61761150	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7133640	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7298444	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7309670	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7311692	0.97[ASN][1000 genomes]
rs7315339	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7960917	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7964623	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7965763	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7973450	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7973623	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7977616	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7980769	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7980834	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898922	chr12:25274593-25408047	Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv898926	chr12:25367669-25408047	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv898927	chr12:25389220-25408047	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25348600-25403200	Weak transcription	Spleen	Spleen
2	chr12:25349000-25402400	Weak transcription	Right Ventricle	heart
3	chr12:25349400-25402600	Weak transcription	Brain Germinal Matrix	brain
4	chr12:25349600-25402600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:25349600-25402600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:25349600-25402600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:25349600-25402600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:25350000-25402800	Weak transcription	Ovary	ovary
9	chr12:25354000-25402400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:25356600-25402600	Weak transcription	Fetal Heart	heart
11	chr12:25361000-25402600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:25361000-25402600	Weak transcription	Fetal Brain Female	brain
13	chr12:25362000-25402400	Weak transcription	HepG2	liver
14	chr12:25372400-25402800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:25374800-25402600	Weak transcription	Placenta	Placenta
16	chr12:25375000-25402800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:25381200-25402400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:25382000-25402600	Weak transcription	Colonic Mucosa	Colon
19	chr12:25385200-25402600	Weak transcription	Aorta	Aorta
20	chr12:25386200-25402800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:25386400-25402800	Weak transcription	Gastric	stomach
22	chr12:25386600-25402600	Weak transcription	Fetal Kidney	kidney
23	chr12:25386800-25402600	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:25389000-25402600	Weak transcription	HMEC	breast
25	chr12:25389400-25402800	Weak transcription	Left Ventricle	heart
26	chr12:25389800-25402400	Weak transcription	NHEK	skin
27	chr12:25389800-25402600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:25389800-25402600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:25389800-25402600	Weak transcription	HSMMtube	muscle
30	chr12:25390000-25402600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:25390600-25402600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:25390600-25402600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:25390600-25402600	Weak transcription	Fetal Stomach	stomach
34	chr12:25390800-25402800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr12:25391000-25402600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:25392000-25402600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:25392000-25402800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:25393000-25402400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:25394200-25402600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:25394800-25402600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:25394800-25402600	Weak transcription	Colon Smooth Muscle	Colon
42	chr12:25394800-25402600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr12:25394800-25402600	Weak transcription	NHLF	lung
44	chr12:25394800-25402600	Weak transcription	Osteobl	bone
45	chr12:25396400-25402400	Weak transcription	Liver	Liver
46	chr12:25396800-25402400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:25397200-25402800	Weak transcription	HSMM	muscle
48	chr12:25398200-25402600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:25398200-25402600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:25398200-25402600	Weak transcription	A549	lung

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