Variant report

Variant	rs4682131
Chromosome Location	chr3:112969270-112969271
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10511323	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11710894	0.93[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11717833	0.93[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11919134	0.81[AMR][1000 genomes]
rs11928342	0.92[JPT][hapmap];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12485329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12492273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12494864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12631733	0.90[CHB][hapmap];0.84[EUR][1000 genomes]
rs12638030	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16860758	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16860787	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1875111	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs2036282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2201971	0.87[AMR][1000 genomes]
rs34284771	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3814398	0.95[CHB][hapmap];0.83[EUR][1000 genomes]
rs3846046	0.86[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3856718	0.93[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3856719	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3856720	0.93[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4682132	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4682478	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682480	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4682481	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4682483	0.82[EUR][1000 genomes]
rs55814436	0.84[AMR][1000 genomes]
rs73235142	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73235143	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73235147	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73235153	0.81[AMR][1000 genomes]
rs7641410	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs775222	0.93[CEU][hapmap];0.90[CHB][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1003511	chr3:112858775-112989045	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv877348	chr3:112914756-113012509	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112932000-112972800	Weak transcription	Aorta	Aorta
2	chr3:112961400-112969400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:112961600-112983000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:112962800-112972400	Weak transcription	Brain Germinal Matrix	brain
5	chr3:112963000-112972800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:112964200-112969400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:112964600-112971400	Enhancers	HSMMtube	muscle
8	chr3:112965800-112969800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:112966200-112972400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:112966400-112969800	Enhancers	HMEC	breast
11	chr3:112966800-112969600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:112966800-112972600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr3:112966800-112973600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr3:112967000-112972400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:112967200-112969400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:112967200-112972200	Weak transcription	Fetal Thymus	thymus
17	chr3:112967200-112973200	Weak transcription	Colonic Mucosa	Colon
18	chr3:112967200-112973200	Weak transcription	Right Atrium	heart
19	chr3:112967400-112969400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr3:112967400-112972600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:112967400-112972600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:112967400-112972600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr3:112968000-112970200	Strong transcription	Gastric	stomach
24	chr3:112968000-112971400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:112968000-112973200	Weak transcription	Left Ventricle	heart
26	chr3:112968200-112969400	Weak transcription	Fetal Brain Female	brain
27	chr3:112968200-112969800	Genic enhancers	Fetal Muscle Trunk	muscle
28	chr3:112968200-112969800	Weak transcription	Lung	lung
29	chr3:112968200-112970000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:112968200-112970200	Genic enhancers	Fetal Muscle Leg	muscle
31	chr3:112968200-112972400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:112968200-112972400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:112968200-112972400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr3:112968400-112971400	Strong transcription	Fetal Stomach	stomach
35	chr3:112968400-112972400	Weak transcription	Fetal Brain Male	brain
36	chr3:112968400-112973000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr3:112968600-112969400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:112968600-112970000	Strong transcription	Colon Smooth Muscle	Colon
39	chr3:112968600-112970000	Strong transcription	Fetal Intestine Large	intestine
40	chr3:112968600-112970400	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr3:112968600-112971000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr3:112968600-112971000	Strong transcription	Fetal Lung	lung
43	chr3:112968600-112971400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr3:112968600-112971400	Strong transcription	Brain Anterior Caudate	brain
45	chr3:112968600-112971400	Strong transcription	Fetal Kidney	kidney
46	chr3:112968600-112972000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
47	chr3:112968600-112972400	Strong transcription	Fetal Intestine Small	intestine
48	chr3:112968600-112972600	Weak transcription	Brain Angular Gyrus	brain
49	chr3:112968600-112980000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:112968800-112969400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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