Variant report

Variant	rs58841378
Chromosome Location	chr1:93418331-93418332
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93416390..93419310-chr1:93425632..93428458,3	K562	blood:

Variant related genes	Relation type
ENSG00000154511	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs61634219	1.00[AMR][1000 genomes]
rs6656130	0.91[AFR][1000 genomes]
rs72968004	1.00[AMR][1000 genomes]
rs72969911	0.91[AFR][1000 genomes]
rs72969954	0.81[AFR][1000 genomes]
rs72969971	0.81[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93400800-93421800	Weak transcription	Fetal Lung	lung
2	chr1:93409200-93421200	Weak transcription	Fetal Brain Female	brain
3	chr1:93409600-93426000	Weak transcription	Lung	lung
4	chr1:93410600-93425600	Weak transcription	Aorta	Aorta
5	chr1:93410600-93425800	Weak transcription	Right Atrium	heart
6	chr1:93410600-93426000	Weak transcription	Left Ventricle	heart
7	chr1:93411000-93422000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:93411000-93425800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:93412400-93422000	Weak transcription	Liver	Liver
10	chr1:93413600-93425600	Enhancers	Primary B cells from peripheral blood	blood
11	chr1:93415000-93419600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr1:93415200-93419400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:93415200-93419800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr1:93415200-93419800	Flanking Active TSS	GM12878-XiMat	blood
15	chr1:93415200-93420000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr1:93415200-93425600	Enhancers	Primary T cells from cord blood	blood
17	chr1:93415200-93425600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:93415200-93425600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr1:93415200-93425600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr1:93415400-93419400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr1:93415400-93419400	Enhancers	Brain Substantia Nigra	brain
22	chr1:93415600-93422800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:93415800-93420400	Enhancers	Primary T cells fromperipheralblood	blood
24	chr1:93416400-93419800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:93416400-93422200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:93416400-93422600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:93416800-93418600	Enhancers	Primary B cells from cord blood	blood
28	chr1:93416800-93419000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr1:93417000-93419000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr1:93417000-93425400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:93417000-93425600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:93417000-93425600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:93417000-93425800	Weak transcription	Right Ventricle	heart
34	chr1:93417200-93418800	Enhancers	Dnd41	blood
35	chr1:93417200-93419000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:93417200-93419000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:93417200-93419000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr1:93417200-93419200	Enhancers	HepG2	liver
39	chr1:93417200-93420600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:93417200-93421800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr1:93417200-93421800	Weak transcription	Fetal Intestine Small	intestine
42	chr1:93417200-93422000	Weak transcription	Adipose Nuclei	Adipose
43	chr1:93417200-93422000	Weak transcription	Colon Smooth Muscle	Colon
44	chr1:93417200-93422200	Weak transcription	Fetal Intestine Large	intestine
45	chr1:93417200-93423800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:93417200-93425800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:93417400-93418800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:93417400-93421800	Weak transcription	Stomach Mucosa	stomach
49	chr1:93417400-93422200	Weak transcription	HSMMtube	muscle
50	chr1:93417400-93422400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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