Variant report

Variant	rs11174604
Chromosome Location	chr12:63083521-63083522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs12823159	0.88[CEU][hapmap];0.88[CHB][hapmap];1.00[GIH][hapmap];0.93[EUR][1000 genomes]
rs2048500	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]
rs7306305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955030	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:72 , 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	chr12:63071400-63087000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:63071600-63087000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:63071600-63096400	Weak transcription	Left Ventricle	heart
7	chr12:63072000-63089200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:63074000-63086200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr12:63074200-63092000	Strong transcription	HepG2	liver
10	chr12:63074600-63096400	Weak transcription	Pancreas	Pancrea
11	chr12:63077800-63086600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:63077800-63095400	Weak transcription	Placenta	Placenta
13	chr12:63078000-63118600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr12:63078200-63087200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:63078200-63087200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:63078200-63091600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr12:63078600-63085000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:63078600-63085000	Weak transcription	Brain Angular Gyrus	brain
19	chr12:63078600-63085600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:63078600-63086000	Weak transcription	NH-A	brain
21	chr12:63078800-63084000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:63078800-63086600	Weak transcription	Fetal Brain Male	brain
23	chr12:63078800-63087400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:63078800-63088200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:63079000-63087800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:63079000-63088000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:63079000-63096400	Weak transcription	Ovary	ovary
28	chr12:63079200-63084800	Weak transcription	Brain Substantia Nigra	brain
29	chr12:63079200-63087200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:63079200-63087200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:63079200-63095000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:63079600-63085200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:63080000-63096400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr12:63080000-63096400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr12:63080600-63083600	Enhancers	Adipose Nuclei	Adipose
36	chr12:63080800-63089400	Weak transcription	Thymus	Thymus
37	chr12:63081200-63086600	Weak transcription	Fetal Muscle Leg	muscle
38	chr12:63081200-63093800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:63081400-63084000	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr12:63081400-63087000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr12:63081400-63087000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr12:63081600-63086200	Weak transcription	NHDF-Ad	bronchial
43	chr12:63081600-63086600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:63082000-63087200	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:63082000-63087400	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:63082200-63083600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr12:63082200-63083800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr12:63082400-63083600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:63082400-63084800	Weak transcription	Fetal Intestine Large	intestine
50	chr12:63082400-63091200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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