Variant report

Variant	rs72991157
Chromosome Location	chr3:137781041-137781042
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:137780995..137783087-chr3:137786062..137788578,2	MCF-7	breast:
2	chr3:137779026..137781498-chr3:137783755..137785265,2	K562	blood:

Variant related genes	Relation type
ENSG00000158163	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs57342874	0.93[AFR][1000 genomes]
rs59699263	0.86[AFR][1000 genomes]
rs72973018	0.93[AFR][1000 genomes]
rs72973021	0.86[AFR][1000 genomes]
rs72973027	0.86[AFR][1000 genomes]
rs72973039	0.86[AFR][1000 genomes]
rs72973043	0.86[AFR][1000 genomes]
rs72991149	0.96[AFR][1000 genomes]
rs72991151	0.96[AFR][1000 genomes]
rs72991154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991163	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991169	0.96[AFR][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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137744400-137792000	Weak transcription	Fetal Kidney	kidney
2	chr3:137750000-137781800	Weak transcription	Lung	lung
3	chr3:137750600-137782200	Weak transcription	Fetal Intestine Small	intestine
4	chr3:137754400-137783000	Weak transcription	Stomach Mucosa	stomach
5	chr3:137763000-137797600	Weak transcription	Hela-S3	cervix
6	chr3:137763400-137781400	Weak transcription	HSMMtube	muscle
7	chr3:137763400-137782600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:137766800-137783600	Weak transcription	Brain Substantia Nigra	brain
9	chr3:137767000-137782800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:137767200-137791800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:137768200-137782800	Weak transcription	Esophagus	oesophagus
12	chr3:137768200-137787600	Weak transcription	A549	lung
13	chr3:137768400-137782200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr3:137768600-137782200	Weak transcription	Gastric	stomach
15	chr3:137768600-137783600	Weak transcription	Pancreas	Pancrea
16	chr3:137769800-137785600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:137770200-137783600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:137770400-137781200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:137770400-137783600	Weak transcription	Fetal Lung	lung
20	chr3:137772800-137792200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:137775200-137781800	Enhancers	Fetal Heart	heart
22	chr3:137777600-137781200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:137777800-137790000	Weak transcription	Brain Germinal Matrix	brain
24	chr3:137778200-137781200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:137778200-137781200	Strong transcription	HSMM	muscle
26	chr3:137778200-137782400	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr3:137778200-137800600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr3:137778400-137781400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr3:137778400-137787400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr3:137778600-137787600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:137778800-137781600	Enhancers	Left Ventricle	heart
32	chr3:137778800-137800400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr3:137779000-137782000	Weak transcription	Brain Anterior Caudate	brain
34	chr3:137779200-137782200	Weak transcription	Fetal Brain Female	brain
35	chr3:137779200-137783000	Weak transcription	Colonic Mucosa	Colon
36	chr3:137779200-137792400	Strong transcription	Fetal Stomach	stomach
37	chr3:137779600-137781400	Strong transcription	NHDF-Ad	bronchial
38	chr3:137779600-137782200	Genic enhancers	Osteobl	bone
39	chr3:137779600-137782800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr3:137779600-137787600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr3:137779800-137782000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:137779800-137782400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:137779800-137787400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr3:137779800-137787600	Strong transcription	Adipose Nuclei	Adipose
45	chr3:137780000-137781200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:137780000-137781200	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr3:137780000-137783800	Strong transcription	Spleen	Spleen
48	chr3:137780000-137784000	Strong transcription	Ovary	ovary
49	chr3:137780000-137785800	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr3:137780000-137787200	Strong transcription	Aorta	Aorta

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