Variant report

Variant	rs72991169
Chromosome Location	chr3:137791919-137791920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs57127459	0.82[AFR][1000 genomes]
rs57342874	0.96[AFR][1000 genomes]
rs59699263	0.89[AFR][1000 genomes]
rs72973018	0.96[AFR][1000 genomes]
rs72973021	0.89[AFR][1000 genomes]
rs72973027	0.89[AFR][1000 genomes]
rs72973039	0.89[AFR][1000 genomes]
rs72973043	0.89[AFR][1000 genomes]
rs72973050	0.82[AFR][1000 genomes]
rs72973053	0.82[AFR][1000 genomes]
rs72973054	0.82[AFR][1000 genomes]
rs72991149	0.93[AFR][1000 genomes]
rs72991151	0.93[AFR][1000 genomes]
rs72991154	0.96[AFR][1000 genomes]
rs72991157	0.96[AFR][1000 genomes]
rs72991163	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2757890	chr3:137611789-137933835	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2759180	chr3:137611789-137933835	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2751978	chr3:137715302-137890750	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1007857	chr3:137767454-137843106	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1008563	chr3:137776151-137801394	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1002136	chr3:137776151-137806500	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv519971	chr3:137782655-137801213	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv522591	chr3:137782655-137801213	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137744400-137792000	Weak transcription	Fetal Kidney	kidney
2	chr3:137763000-137797600	Weak transcription	Hela-S3	cervix
3	chr3:137772800-137792200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:137778200-137800600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:137778800-137800400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:137779200-137792400	Strong transcription	Fetal Stomach	stomach
7	chr3:137780000-137792600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:137780000-137792600	Strong transcription	Fetal Muscle Trunk	muscle
9	chr3:137780000-137797600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr3:137780000-137813400	Weak transcription	HUVEC	blood vessel
11	chr3:137780400-137792400	Strong transcription	Stomach Smooth Muscle	stomach
12	chr3:137780600-137811600	Weak transcription	Psoas Muscle	Psoas
13	chr3:137780800-137800600	Weak transcription	Brain Hippocampus Middle	brain
14	chr3:137781000-137833200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr3:137781400-137796600	Weak transcription	NHEK	skin
16	chr3:137781800-137796200	Weak transcription	Fetal Heart	heart
17	chr3:137782400-137794600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr3:137782600-137800600	Weak transcription	Placenta	Placenta
19	chr3:137783000-137802000	Weak transcription	Fetal Brain Female	brain
20	chr3:137783200-137811600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr3:137783200-137821200	Weak transcription	Colonic Mucosa	Colon
22	chr3:137783800-137797400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr3:137784400-137795000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:137785000-137801000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr3:137785400-137805600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:137785600-137796200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:137785600-137800600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr3:137785800-137799000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr3:137786000-137802000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr3:137786200-137795400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr3:137786200-137798200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr3:137786400-137796200	Weak transcription	NHDF-Ad	bronchial
33	chr3:137786800-137796000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:137787000-137794600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr3:137787200-137793000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:137787200-137800400	Weak transcription	Gastric	stomach
37	chr3:137787600-137792200	Weak transcription	Fetal Intestine Small	intestine
38	chr3:137787600-137795800	Weak transcription	HSMMtube	muscle
39	chr3:137787600-137806600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr3:137787800-137792000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:137787800-137794800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr3:137787800-137796000	Weak transcription	Brain Anterior Caudate	brain
43	chr3:137787800-137800400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr3:137787800-137800400	Weak transcription	Brain Substantia Nigra	brain
45	chr3:137787800-137802600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr3:137787800-137805200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr3:137788000-137800400	Weak transcription	Stomach Mucosa	stomach
48	chr3:137788200-137792200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:137788200-137797000	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr3:137788600-137792400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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