Variant report

Variant	rs2173572
Chromosome Location	chr12:32767710-32767711
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1004968	0.89[ASN][1000 genomes]
rs10771969	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10771971	0.82[ASN][1000 genomes]
rs10771972	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10771973	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844252	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844253	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844254	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844255	0.90[ASN][1000 genomes]
rs10844256	0.90[ASN][1000 genomes]
rs10844257	0.90[ASN][1000 genomes]
rs10844258	0.91[ASN][1000 genomes]
rs10844259	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844260	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844261	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844262	0.89[ASN][1000 genomes]
rs10844263	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844264	0.89[ASN][1000 genomes]
rs10844265	0.89[ASN][1000 genomes]
rs10844266	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10844268	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844270	0.82[ASN][1000 genomes]
rs10844271	0.89[ASN][1000 genomes]
rs10844272	0.80[ASN][1000 genomes]
rs11052103	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11052104	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11052110	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11052114	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11052117	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11052123	0.82[ASN][1000 genomes]
rs11052124	0.82[ASN][1000 genomes]
rs11052126	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11052128	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1133509	0.82[ASN][1000 genomes]
rs11831099	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12311362	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12319480	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12370222	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1473652	0.80[ASN][1000 genomes]
rs1875060	0.82[ASN][1000 genomes]
rs1880557	0.82[ASN][1000 genomes]
rs1909510	0.89[ASN][1000 genomes]
rs2133541	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389101	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4438130	0.82[ASN][1000 genomes]
rs4931648	0.82[ASN][1000 genomes]
rs56397387	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61652801	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67940080	0.82[ASN][1000 genomes]
rs7306370	0.82[ASN][1000 genomes]
rs7306976	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7962152	0.89[ASN][1000 genomes]
rs7964947	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7966020	0.82[ASN][1000 genomes]
rs7970584	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7980205	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs999841	0.92[EUR][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	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv527786	chr12:32761558-32771912	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32713000-32780400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:32713400-32796200	Weak transcription	Fetal Lung	lung
3	chr12:32720200-32778400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:32722600-32779400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:32725200-32778600	Weak transcription	Fetal Brain Male	brain
6	chr12:32741800-32769600	Weak transcription	Stomach Mucosa	stomach
7	chr12:32744200-32797600	Weak transcription	Fetal Heart	heart
8	chr12:32750000-32770400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:32753000-32774200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:32754200-32795200	Weak transcription	Primary B cells from cord blood	blood
11	chr12:32755000-32775800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:32755400-32800600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:32756200-32789800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr12:32757000-32783400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:32757400-32799600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:32757600-32798000	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:32757800-32771200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:32757800-32778800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:32757800-32797800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:32758400-32799400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:32758600-32780800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:32758600-32797800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:32758600-32799600	Strong transcription	Liver	Liver
24	chr12:32758600-32800400	Strong transcription	HSMM	muscle
25	chr12:32758800-32770600	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr12:32758800-32799600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:32759400-32769600	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:32759600-32767800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:32759800-32795000	Weak transcription	Fetal Kidney	kidney
30	chr12:32760200-32795000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr12:32760600-32793200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:32761000-32768200	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr12:32762800-32799600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:32764600-32777600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:32765000-32770600	Weak transcription	HepG2	liver
36	chr12:32765200-32794000	Weak transcription	NHLF	lung
37	chr12:32765400-32768000	Weak transcription	Fetal Intestine Small	intestine
38	chr12:32765400-32768600	Weak transcription	Gastric	stomach
39	chr12:32765400-32770000	Strong transcription	Fetal Muscle Leg	muscle
40	chr12:32765400-32771000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:32765400-32772600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:32765400-32772600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr12:32765400-32772800	Weak transcription	Right Ventricle	heart
44	chr12:32765400-32773200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:32765400-32774000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:32765400-32774600	Weak transcription	Aorta	Aorta
47	chr12:32765400-32777400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:32765400-32778000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:32765400-32780800	Weak transcription	Pancreas	Pancrea
50	chr12:32765400-32784800	Weak transcription	Colon Smooth Muscle	Colon

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