Variant report

Variant	rs7131599
Chromosome Location	chr11:57186492-57186493
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	POLR2A	chr11:57186431-57189612	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
SLC43A3	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4938865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6591425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7111423	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57167400-57188200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:57170200-57191600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:57172600-57189800	Strong transcription	Dnd41	blood
4	chr11:57173000-57192800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:57173200-57191400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:57173200-57191400	Strong transcription	Fetal Thymus	thymus
7	chr11:57174200-57189400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:57174200-57191800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:57174800-57189200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:57174800-57192000	Weak transcription	HSMMtube	muscle
11	chr11:57175000-57188800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:57175000-57190000	Strong transcription	NHEK	skin
13	chr11:57175400-57190200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr11:57175600-57187400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr11:57175600-57191200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:57175600-57191400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:57176000-57192800	Weak transcription	Stomach Mucosa	stomach
18	chr11:57176800-57192800	Weak transcription	Brain Anterior Caudate	brain
19	chr11:57177800-57188200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr11:57177800-57189400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:57178000-57190400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:57178200-57190400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:57180400-57189000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:57180400-57190600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:57180400-57193400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr11:57180600-57189400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:57180600-57191200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:57180800-57189800	Strong transcription	Thymus	Thymus
29	chr11:57181000-57188000	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr11:57181000-57188800	Strong transcription	Left Ventricle	heart
31	chr11:57181000-57189400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:57181000-57191200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:57181000-57191800	Strong transcription	Fetal Stomach	stomach
34	chr11:57181200-57190000	Strong transcription	Fetal Lung	lung
35	chr11:57182600-57191600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:57182800-57193000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:57183000-57192800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:57183600-57187200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
39	chr11:57184400-57191400	Weak transcription	Right Atrium	heart
40	chr11:57184600-57192400	Weak transcription	Aorta	Aorta
41	chr11:57185000-57191200	Strong transcription	Stomach Smooth Muscle	stomach
42	chr11:57185000-57191400	Strong transcription	Fetal Muscle Trunk	muscle
43	chr11:57185000-57191600	Weak transcription	Placenta	Placenta
44	chr11:57185000-57192400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:57185200-57187200	Strong transcription	HUVEC	blood vessel
46	chr11:57185200-57187400	Weak transcription	Colon Smooth Muscle	Colon
47	chr11:57185200-57187600	Strong transcription	Liver	Liver
48	chr11:57185200-57191400	Weak transcription	Right Ventricle	heart
49	chr11:57185200-57193600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr11:57185400-57186600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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