Variant report

Variant	rs28475588
Chromosome Location	chr3:143695952-143695953
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:143695787..143698743-chr3:143748690..143750623,2	K562	blood:
2	chr3:143694108..143696591-chr3:143721286..143722845,2	K562	blood:
3	chr3:143694211..143696611-chr3:143698183..143700521,4	K562	blood:
4	chr3:143695188..143697980-chr3:143701408..143704204,2	MCF-7	breast:
5	chr3:143694586..143698442-chr3:143710768..143713586,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16854752	1.00[AMR][1000 genomes]
rs56805765	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57432713	1.00[AMR][1000 genomes]
rs73870586	1.00[AMR][1000 genomes]
rs73870587	1.00[AMR][1000 genomes]
rs73870994	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73872624	1.00[AMR][1000 genomes]
rs73872667	1.00[AMR][1000 genomes]
rs7643008	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877568	chr3:143621140-143992630	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3365190	chr3:143642195-143925886	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv591922	chr3:143645242-143825439	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv518814	chr3:143666825-143703750	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143688800-143696400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:143689000-143696800	Active TSS	Stomach Smooth Muscle	stomach
3	chr3:143689200-143696200	Active TSS	GM12878-XiMat	blood
4	chr3:143689400-143696200	Active TSS	Brain Angular Gyrus	brain
5	chr3:143689400-143696400	Active TSS	Fetal Brain Female	brain
6	chr3:143689400-143696800	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr3:143689400-143697200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:143689600-143696800	Active TSS	Ovary	ovary
9	chr3:143689800-143696800	Active TSS	HSMMtube	muscle
10	chr3:143692600-143707800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:143692800-143714200	Weak transcription	Small Intestine	intestine
12	chr3:143693000-143696200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr3:143693000-143697800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr3:143693000-143697800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr3:143693400-143697800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr3:143693400-143699400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr3:143693400-143706800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr3:143693400-143708400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr3:143693400-143708400	Weak transcription	Psoas Muscle	Psoas
20	chr3:143693400-143713800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr3:143693600-143696800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr3:143693600-143698400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr3:143693600-143711600	Weak transcription	Left Ventricle	heart
24	chr3:143693800-143696000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:143693800-143696600	Enhancers	Rectal Smooth Muscle	rectum
26	chr3:143693800-143696800	Weak transcription	NH-A	brain
27	chr3:143693800-143697200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr3:143693800-143697800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr3:143693800-143698200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr3:143693800-143701600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:143694000-143696200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:143694000-143696200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr3:143694000-143697800	Enhancers	Primary T cells from cord blood	blood
34	chr3:143694000-143698400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr3:143694000-143708000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr3:143694200-143703200	Weak transcription	Placenta	Placenta
37	chr3:143694200-143705600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:143694400-143696000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:143694400-143696000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr3:143694400-143696200	Enhancers	Primary B cells from cord blood	blood
41	chr3:143694400-143696200	Weak transcription	Adipose Nuclei	Adipose
42	chr3:143694400-143696400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:143694400-143696400	Weak transcription	Osteobl	bone
44	chr3:143694400-143697200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:143694400-143697200	Enhancers	Liver	Liver
46	chr3:143694400-143700000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr3:143694400-143708400	Weak transcription	Fetal Intestine Small	intestine
48	chr3:143694400-143718800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr3:143694400-143719400	Weak transcription	Hela-S3	cervix
50	chr3:143694600-143696400	Active TSS	Duodenum Smooth Muscle	Duodenum

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