Variant report

Variant	rs9813135
Chromosome Location	chr3:49165304-49165305
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:49164955-49165382	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:49157786..49160354-chr3:49162169..49166398,5	MCF-7	breast:
2	chr3:49058464..49060855-chr3:49163204..49165985,2	K562	blood:
3	chr3:49158149..49166168-chr3:49166363..49171688,12	K562	blood:
4	chr3:49159120..49160770-chr3:49163347..49165357,2	MCF-7	breast:

Variant related genes	Relation type
LAMB2	TF binding region
ENSG00000172037	Chromatin interaction
ENSG00000172046	Chromatin interaction
ENSG00000178149	Chromatin interaction
ENSG00000178057	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13321689	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9826085	0.97[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876764	chr3:49040462-49245645	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	279 gene(s)	inside rSNPs	diseases
2	nsv834686	chr3:49106047-49270556	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49158200-49169600	Weak transcription	Fetal Brain Male	brain
2	chr3:49158400-49169200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:49158600-49166600	Strong transcription	Aorta	Aorta
4	chr3:49158600-49167200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:49158600-49167600	Strong transcription	Gastric	stomach
6	chr3:49158600-49168600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:49158600-49168600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:49158600-49168800	Strong transcription	Osteobl	bone
9	chr3:49158800-49166600	Strong transcription	Fetal Lung	lung
10	chr3:49158800-49167000	Strong transcription	Left Ventricle	heart
11	chr3:49158800-49167800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:49158800-49168000	Strong transcription	Fetal Stomach	stomach
13	chr3:49158800-49168400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:49158800-49168400	Strong transcription	Placenta Amnion	Placenta Amnion
15	chr3:49158800-49168600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:49158800-49168800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:49158800-49169200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr3:49158800-49169200	Weak transcription	Brain Germinal Matrix	brain
19	chr3:49158800-49169400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:49159000-49165600	Strong transcription	Fetal Muscle Trunk	muscle
21	chr3:49159000-49166800	Strong transcription	Stomach Smooth Muscle	stomach
22	chr3:49159000-49167000	Strong transcription	Placenta	Placenta
23	chr3:49159000-49167600	Strong transcription	Adipose Nuclei	Adipose
24	chr3:49159000-49167800	Strong transcription	Colon Smooth Muscle	Colon
25	chr3:49159000-49168400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr3:49159000-49169000	Strong transcription	Fetal Intestine Small	intestine
27	chr3:49159000-49169200	Weak transcription	Brain Angular Gyrus	brain
28	chr3:49159000-49169400	Weak transcription	Fetal Brain Female	brain
29	chr3:49159000-49170000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr3:49159200-49166600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr3:49159200-49167400	Strong transcription	Fetal Muscle Leg	muscle
32	chr3:49159200-49168800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:49159200-49169000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr3:49159400-49165800	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr3:49159400-49166600	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr3:49159400-49169200	Strong transcription	Fetal Intestine Large	intestine
37	chr3:49160000-49168000	Strong transcription	Ovary	ovary
38	chr3:49161400-49169200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr3:49161600-49167400	Weak transcription	Fetal Heart	heart
40	chr3:49162200-49165600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr3:49162200-49169000	Weak transcription	A549	lung
42	chr3:49162400-49169200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr3:49162400-49169400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:49162400-49169400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr3:49162400-49169400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr3:49162600-49168200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr3:49162600-49168200	Weak transcription	Psoas Muscle	Psoas
48	chr3:49162600-49169200	Weak transcription	Stomach Mucosa	stomach
49	chr3:49162600-49169400	Weak transcription	Brain Hippocampus Middle	brain
50	chr3:49162800-49167000	Weak transcription	H9 Cell Line	embryonic stem cell

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