Variant report

Variant	rs12632225
Chromosome Location	chr3:47862562-47862563
allele	A/G
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	chr3:47862121-47869038	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:47841394..47846517-chr3:47861978..47869167,10	MCF-7	breast:
2	chr3:47851691..47863624-chr3:47863694..47870558,21	K562	blood:
3	chr3:47844071..47846610-chr3:47860071..47863665,3	K562	blood:
4	chr3:47855068..47856997-chr3:47862037..47863595,2	K562	blood:

Variant related genes	Relation type
DHX30	TF binding region
ENSG00000132153	Chromatin interaction

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

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

rs_ID	r²[population]
rs34464659	1.00[MEX][hapmap]
rs34675858	1.00[MEX][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	nsv1003072	chr3:47673628-47869154	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv834679	chr3:47749475-47924006	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47845600-47866000	Weak transcription	Right Atrium	heart
2	chr3:47845600-47866200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:47845600-47866600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:47845800-47866000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:47846400-47863800	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr3:47846400-47865800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr3:47846600-47863800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr3:47846600-47863800	Strong transcription	Fetal Thymus	thymus
9	chr3:47846600-47864000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:47846600-47864000	Strong transcription	Fetal Muscle Leg	muscle
11	chr3:47846600-47864200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:47846600-47864200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr3:47846600-47865800	Weak transcription	Fetal Heart	heart
14	chr3:47846800-47863800	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:47846800-47864400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:47846800-47864600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:47846800-47864800	Strong transcription	Fetal Stomach	stomach
18	chr3:47846800-47865800	Weak transcription	Hela-S3	cervix
19	chr3:47847000-47864000	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr3:47847000-47864000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr3:47848000-47863400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:47848200-47864000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:47848600-47864000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:47848600-47864400	Strong transcription	Thymus	Thymus
25	chr3:47851200-47862600	Strong transcription	Primary B cells from peripheral blood	blood
26	chr3:47851200-47863800	Strong transcription	Stomach Smooth Muscle	stomach
27	chr3:47852600-47866200	Weak transcription	Psoas Muscle	Psoas
28	chr3:47853000-47865800	Weak transcription	K562	blood
29	chr3:47853000-47866000	Weak transcription	Small Intestine	intestine
30	chr3:47853200-47865800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr3:47853200-47865800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr3:47853200-47865800	Weak transcription	GM12878-XiMat	blood
33	chr3:47853200-47865800	Weak transcription	HUVEC	blood vessel
34	chr3:47853200-47866000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr3:47853400-47865200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr3:47853400-47865800	Weak transcription	Fetal Brain Male	brain
37	chr3:47853400-47865800	Weak transcription	Stomach Mucosa	stomach
38	chr3:47855200-47864800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:47856200-47863600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:47856200-47863800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr3:47856200-47864000	Strong transcription	Fetal Intestine Large	intestine
42	chr3:47856400-47863000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr3:47856400-47863600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:47856400-47863800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr3:47856400-47864000	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr3:47856400-47864000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:47856400-47864000	Strong transcription	Fetal Brain Female	brain
48	chr3:47856600-47863200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:47856600-47864000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:47856600-47864200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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