Variant report

Variant	rs1352421
Chromosome Location	chr3:48789804-48789805
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs11715496	1.00[LWK][hapmap]
rs11919537	1.00[LWK][hapmap]

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	nsv590247	chr3:48661985-48801929	Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	esv3407876	chr3:48774454-48823998	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48777800-48807400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:48778000-48807200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr3:48778200-48814400	Weak transcription	Fetal Heart	heart
4	chr3:48778200-48820200	Weak transcription	Fetal Kidney	kidney
5	chr3:48778200-48836600	Weak transcription	A549	lung
6	chr3:48778400-48796000	Weak transcription	Colon Smooth Muscle	Colon
7	chr3:48778600-48826000	Weak transcription	Stomach Mucosa	stomach
8	chr3:48782200-48814400	Weak transcription	K562	blood
9	chr3:48783200-48790000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:48783400-48811400	Strong transcription	Fetal Stomach	stomach
11	chr3:48784000-48790000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:48784400-48794600	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr3:48784600-48790200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:48784800-48790000	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr3:48784800-48790200	Strong transcription	Primary T cells from cord blood	blood
16	chr3:48784800-48790200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr3:48784800-48791400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr3:48784800-48791800	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr3:48784800-48793800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:48785000-48790200	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr3:48785000-48790200	Strong transcription	Stomach Smooth Muscle	stomach
22	chr3:48785000-48790400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr3:48785000-48791000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr3:48785400-48800800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr3:48785400-48819200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr3:48785600-48791800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:48785800-48790400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:48786000-48803400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr3:48786200-48812600	Strong transcription	Fetal Muscle Leg	muscle
30	chr3:48786400-48797600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr3:48786600-48807600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr3:48786600-48812800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:48786800-48807400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr3:48787600-48790000	Strong transcription	Osteobl	bone
35	chr3:48787600-48790200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:48787800-48790000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr3:48787800-48790000	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr3:48788000-48790000	Genic enhancers	Brain Substantia Nigra	brain
39	chr3:48788000-48790000	Strong transcription	Fetal Brain Female	brain
40	chr3:48788000-48790000	Strong transcription	Left Ventricle	heart
41	chr3:48788000-48790200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr3:48788000-48790200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr3:48788000-48790200	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr3:48788000-48790200	Strong transcription	HSMMtube	muscle
45	chr3:48788000-48790400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:48788000-48790400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr3:48788000-48791200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr3:48788000-48791200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr3:48788000-48791200	Strong transcription	Duodenum Mucosa	Duodenum
50	chr3:48788000-48791200	Strong transcription	Ovary	ovary

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