Variant report

Variant	rs34607531
Chromosome Location	chr3:138214494-138214495
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs11916525	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12054428	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12630060	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12630144	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12630351	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12632793	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12632794	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12635354	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12635490	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12635904	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12636936	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12637638	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12637679	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13059817	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13062423	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13067095	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13067864	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13069355	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13072751	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13073978	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13077766	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13084780	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13093668	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13095122	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13095125	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13098554	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1563615	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1625751	0.80[ASN][1000 genomes]
rs1720833	0.80[ASN][1000 genomes]
rs2085446	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2085447	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2086351	0.80[ASN][1000 genomes]
rs2280596	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34011134	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34153951	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34284415	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34316974	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34377792	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34416776	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34482601	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34583117	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34640717	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34652182	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34878008	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35034861	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35269190	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35270255	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35340237	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35489558	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35537868	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35549884	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35597846	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35834585	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35876758	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35906980	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3773748	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56028542	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56654955	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57516770	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58873565	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59184769	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59371015	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60371967	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60426689	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61258082	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61662147	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66775405	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67390774	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67666216	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6784770	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs774011	0.80[ASN][1000 genomes]
rs774012	0.80[ASN][1000 genomes]
rs9049	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9855306	0.80[ASN][1000 genomes]
rs9880928	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv3447663	chr3:138096329-138273034	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv999041	chr3:138148812-138347988	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv522517	chr3:138174523-138297982	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138194000-138260200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr3:138207000-138223800	Weak transcription	Brain Anterior Caudate	brain
3	chr3:138208400-138227400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:138208600-138215000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:138209200-138218400	Weak transcription	Gastric	stomach
6	chr3:138209400-138236800	Weak transcription	Aorta	Aorta
7	chr3:138209800-138258600	Weak transcription	Primary T cells from cord blood	blood
8	chr3:138210000-138218400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr3:138210000-138230200	Weak transcription	Fetal Brain Male	brain
10	chr3:138210200-138215000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:138210200-138222000	Weak transcription	Brain Hippocampus Middle	brain
12	chr3:138210400-138215200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:138210400-138218400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr3:138210400-138236800	Weak transcription	Brain Substantia Nigra	brain
15	chr3:138210400-138242000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr3:138210800-138260600	Weak transcription	Colonic Mucosa	Colon
17	chr3:138211000-138229400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:138211000-138231000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr3:138211000-138236600	Weak transcription	Spleen	Spleen
20	chr3:138211200-138215000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr3:138211200-138215000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr3:138211200-138215000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr3:138211200-138227200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:138211200-138260600	Weak transcription	Brain Angular Gyrus	brain
25	chr3:138211400-138230400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr3:138211600-138215200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:138211600-138227400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr3:138211800-138214800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:138211800-138215200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr3:138211800-138260600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr3:138212000-138235000	Weak transcription	Brain Germinal Matrix	brain
32	chr3:138212000-138235800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr3:138212200-138218400	Weak transcription	Fetal Muscle Leg	muscle
34	chr3:138212400-138214800	Weak transcription	Fetal Intestine Small	intestine
35	chr3:138212400-138215000	Weak transcription	Fetal Lung	lung
36	chr3:138212400-138218400	Weak transcription	Pancreas	Pancrea
37	chr3:138212400-138221200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:138212400-138236600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:138212400-138236600	Weak transcription	Esophagus	oesophagus
40	chr3:138212600-138216600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:138212600-138217200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr3:138212600-138218400	Weak transcription	Fetal Stomach	stomach
43	chr3:138212600-138224400	Weak transcription	Left Ventricle	heart
44	chr3:138212600-138236600	Weak transcription	Lung	lung
45	chr3:138212600-138250200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr3:138212800-138214800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr3:138212800-138215000	Weak transcription	Stomach Mucosa	stomach
48	chr3:138212800-138236800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr3:138212800-138249800	Weak transcription	Small Intestine	intestine
50	chr3:138213000-138216600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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