Variant report

Variant	rs2634731
Chromosome Location	chr3:67579412-67579413
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17028544	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17046601	1.00[EUR][1000 genomes]
rs1928551	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2634730	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2772473	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2772476	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2772480	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4856877	0.97[EUR][1000 genomes]
rs6807618	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088956	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9860008	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007093	chr3:67113534-67602973	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv470638	chr3:67367341-67814738	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv460700	chr3:67393629-67712970	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv590560	chr3:67393629-67712970	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv834719	chr3:67396626-67589852	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv1012416	chr3:67546244-67615531	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv590561	chr3:67548852-67690626	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67521600-67580400	Weak transcription	Stomach Mucosa	stomach
2	chr3:67526800-67583200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:67537400-67579600	Weak transcription	Small Intestine	intestine
4	chr3:67541400-67582000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:67544200-67580200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:67553800-67579600	Weak transcription	Hela-S3	cervix
7	chr3:67555800-67579600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr3:67557400-67583200	Weak transcription	K562	blood
9	chr3:67558400-67580200	Weak transcription	Fetal Thymus	thymus
10	chr3:67560200-67581800	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:67560600-67580200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:67560600-67586200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:67560600-67620800	Weak transcription	Esophagus	oesophagus
14	chr3:67563800-67580800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:67564600-67579800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr3:67564800-67580400	Weak transcription	Brain Anterior Caudate	brain
17	chr3:67565000-67580200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:67565600-67579800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr3:67565600-67595800	Weak transcription	Fetal Kidney	kidney
20	chr3:67566600-67581000	Weak transcription	Gastric	stomach
21	chr3:67566800-67580200	Weak transcription	HUVEC	blood vessel
22	chr3:67566800-67581800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr3:67566800-67582000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr3:67567000-67581200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr3:67567000-67581800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr3:67567200-67581400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:67568000-67580600	Weak transcription	Colonic Mucosa	Colon
28	chr3:67568000-67590600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:67568600-67580400	Weak transcription	Placenta	Placenta
30	chr3:67572800-67581600	Strong transcription	Primary B cells from cord blood	blood
31	chr3:67574400-67579600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr3:67575600-67579600	Strong transcription	Fetal Intestine Large	intestine
33	chr3:67575600-67580000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr3:67575800-67579600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr3:67576200-67579800	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr3:67576200-67585400	Enhancers	NHDF-Ad	bronchial
37	chr3:67576400-67579600	Strong transcription	Duodenum Mucosa	Duodenum
38	chr3:67576400-67579600	Strong transcription	Ovary	ovary
39	chr3:67576400-67579800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr3:67576800-67580600	Strong transcription	Primary T cells from cord blood	blood
41	chr3:67577200-67580400	Weak transcription	NHEK	skin
42	chr3:67577200-67581000	Weak transcription	HMEC	breast
43	chr3:67577400-67580200	Weak transcription	HSMMtube	muscle
44	chr3:67577400-67581800	Weak transcription	NH-A	brain
45	chr3:67577800-67579600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr3:67578000-67580200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:67578000-67581400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr3:67578200-67580000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr3:67578200-67580800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr3:67578200-67581200	Weak transcription	Rectal Mucosa Donor 31	rectum

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