Variant report

Variant	rs2048500
Chromosome Location	chr12:63082831-63082832
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:63077508..63079234-chr12:63080759..63082975,2	MCF-7	breast:
2	chr12:63080648..63083389-chr12:63085536..63088456,3	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11174604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12823159	0.88[CEU][hapmap];0.88[CHB][hapmap];0.92[EUR][1000 genomes]
rs7306305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv527742	chr12:63078183-63084312	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
2	nsv516508	chr12:63080231-63084312	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
3	nsv524555	chr12:63080231-63086591	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63067400-63116800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:63068800-63102800	Weak transcription	Right Ventricle	heart
3	chr12:63069400-63096600	Weak transcription	Fetal Kidney	kidney
4	chr12:63071400-63083200	Weak transcription	Gastric	stomach
5	chr12:63071400-63087000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:63071600-63087000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:63071600-63096400	Weak transcription	Left Ventricle	heart
8	chr12:63072000-63089200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:63074000-63086200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr12:63074200-63092000	Strong transcription	HepG2	liver
11	chr12:63074600-63096400	Weak transcription	Pancreas	Pancrea
12	chr12:63077800-63086600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:63077800-63095400	Weak transcription	Placenta	Placenta
14	chr12:63078000-63118600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr12:63078200-63083000	Weak transcription	A549	lung
16	chr12:63078200-63083200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:63078200-63087200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:63078200-63087200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:63078200-63091600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr12:63078600-63085000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:63078600-63085000	Weak transcription	Brain Angular Gyrus	brain
22	chr12:63078600-63085600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:63078600-63086000	Weak transcription	NH-A	brain
24	chr12:63078800-63084000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:63078800-63086600	Weak transcription	Fetal Brain Male	brain
26	chr12:63078800-63087400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:63078800-63088200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:63079000-63083000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:63079000-63087800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:63079000-63088000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:63079000-63096400	Weak transcription	Ovary	ovary
32	chr12:63079200-63083000	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:63079200-63083000	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:63079200-63083200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:63079200-63084800	Weak transcription	Brain Substantia Nigra	brain
36	chr12:63079200-63087200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:63079200-63087200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:63079200-63095000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr12:63079400-63083000	Weak transcription	Fetal Stomach	stomach
40	chr12:63079400-63083000	Weak transcription	NHLF	lung
41	chr12:63079600-63085200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:63080000-63096400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr12:63080000-63096400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr12:63080600-63083600	Enhancers	Adipose Nuclei	Adipose
45	chr12:63080800-63089400	Weak transcription	Thymus	Thymus
46	chr12:63081200-63086600	Weak transcription	Fetal Muscle Leg	muscle
47	chr12:63081200-63093800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:63081400-63084000	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr12:63081400-63087000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:63081400-63087000	Weak transcription	Fetal Muscle Trunk	muscle

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