Variant report

Variant	rs13321590
Chromosome Location	chr3:42549797-42549798
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:42542738..42545212-chr3:42547259..42551511,4	MCF-7	breast:
2	chr3:42530093..42535343-chr3:42545492..42550064,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114812	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4467424	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7613206	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7628932	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs95923	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529987	chr3:41921995-42591771	Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1005533	chr3:41953873-42596375	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv1804804	chr3:42515186-42582403	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv527430	chr3:42534042-42557199	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1814102	chr3:42539966-42582403	Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42544600-42551600	Weak transcription	Pancreas	Pancrea
2	chr3:42544800-42550600	Weak transcription	Right Atrium	heart
3	chr3:42545000-42549800	Weak transcription	Small Intestine	intestine
4	chr3:42545400-42551400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr3:42545400-42553800	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr3:42545600-42550200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr3:42546600-42553800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr3:42547200-42561800	Genic enhancers	Fetal Intestine Small	intestine
9	chr3:42547600-42579000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:42547800-42550000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr3:42547800-42551000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr3:42548000-42550200	Enhancers	Fetal Intestine Large	intestine
13	chr3:42548400-42550000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr3:42548400-42551000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr3:42548400-42552400	Enhancers	Colonic Mucosa	Colon
16	chr3:42548600-42549800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr3:42548600-42549800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:42548600-42549800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr3:42548600-42549800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr3:42548600-42549800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr3:42548600-42549800	Enhancers	Fetal Heart	heart
22	chr3:42548600-42549800	Enhancers	Placenta	Placenta
23	chr3:42548600-42549800	Enhancers	Spleen	Spleen
24	chr3:42548600-42550400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr3:42548600-42550400	Enhancers	Fetal Thymus	thymus
26	chr3:42548600-42550800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr3:42548600-42550800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr3:42548600-42553000	Enhancers	Stomach Mucosa	stomach
29	chr3:42548800-42549800	Enhancers	Primary hematopoietic stem cells	blood
30	chr3:42548800-42549800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:42548800-42549800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:42548800-42549800	Enhancers	Adipose Nuclei	Adipose
33	chr3:42548800-42551600	Enhancers	Lung	lung
34	chr3:42548800-42553200	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr3:42549000-42550400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr3:42549200-42549800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr3:42549200-42550200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr3:42549200-42550200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr3:42549200-42551400	Weak transcription	Left Ventricle	heart
40	chr3:42549200-42551600	Weak transcription	Esophagus	oesophagus
41	chr3:42549200-42551600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr3:42549200-42561800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:42549400-42549800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr3:42549400-42550000	Enhancers	Brain Anterior Caudate	brain
45	chr3:42549400-42550200	Enhancers	Primary T cells from cord blood	blood
46	chr3:42549400-42550200	Weak transcription	Right Ventricle	heart
47	chr3:42549400-42555800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr3:42549600-42549800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr3:42549600-42549800	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr3:42549600-42550000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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