Variant report

Variant	rs13412840
Chromosome Location	chr2:173416516-173416517
allele	C/T
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	CUX1	chr2:173416445-173416645	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173415950..173418618-chr2:173418644..173420848,5	MCF-7	breast:
2	chr2:173402424..173405362-chr2:173415931..173417472,2	K562	blood:

Variant related genes	Relation type
PDK1	TF binding region
ENSG00000152256	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10195437	1.00[YRI][hapmap];1.00[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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173392600-173419600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:173410000-173418800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:173410600-173417000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:173410800-173418000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:173410800-173418800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:173411000-173419600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:173411400-173417600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:173413000-173417400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:173413000-173419400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:173413000-173419600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:173413400-173419200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr2:173413800-173416800	Weak transcription	Primary B cells from cord blood	blood
13	chr2:173413800-173419800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr2:173414000-173416600	Enhancers	Primary T cells from cord blood	blood
15	chr2:173414000-173417000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:173414000-173417200	Weak transcription	HMEC	breast
17	chr2:173414000-173418000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:173414000-173418000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:173414000-173419400	Weak transcription	Placenta	Placenta
20	chr2:173414400-173416800	Weak transcription	GM12878-XiMat	blood
21	chr2:173414600-173417600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr2:173414600-173419000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr2:173414800-173416800	Enhancers	Fetal Heart	heart
24	chr2:173415000-173419600	Enhancers	Placenta Amnion	Placenta Amnion
25	chr2:173415400-173416600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr2:173415400-173418200	Enhancers	Fetal Intestine Small	intestine
27	chr2:173415600-173416600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:173415600-173419200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:173415600-173419200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:173415600-173419400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:173415600-173420000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:173415800-173416800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr2:173415800-173417000	Enhancers	Adipose Nuclei	Adipose
34	chr2:173415800-173417800	Weak transcription	Fetal Intestine Large	intestine
35	chr2:173415800-173419200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:173415800-173419600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:173415800-173420000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:173416000-173416600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr2:173416000-173416600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr2:173416000-173416600	Enhancers	Osteobl	bone
41	chr2:173416000-173417400	Weak transcription	HSMM	muscle
42	chr2:173416000-173417800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:173416000-173419000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr2:173416200-173416800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:173416200-173419000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr2:173416200-173419600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:173416200-173419800	Weak transcription	Right Atrium	heart
48	chr2:173416400-173416800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:173416400-173416800	Weak transcription	K562	blood
50	chr2:173416400-173417800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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