Variant report

Variant	rs17023819
Chromosome Location	chr2:39621543-39621544
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	GATA1	chr2:39621524-39622166	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39619324..39621910-chr2:39662875..39665257,2	K562	blood:

Variant related genes	Relation type
RNU6-1185P	TF binding region
ENSG00000011566	Chromatin interaction
ENSG00000231312	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10490304	1.00[AMR][1000 genomes]
rs17023823	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72929192	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72929194	1.00[AMR][1000 genomes]
rs72929198	1.00[AMR][1000 genomes]
rs72929202	1.00[AMR][1000 genomes]
rs72931106	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931107	1.00[AMR][1000 genomes]
rs72931112	1.00[AMR][1000 genomes]
rs72931114	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	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39588000-39630400	Weak transcription	Placenta	Placenta
2	chr2:39603200-39638400	Weak transcription	Hela-S3	cervix
3	chr2:39603400-39625000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:39603400-39626800	Weak transcription	Primary T cells from cord blood	blood
5	chr2:39607000-39626800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:39607400-39624800	Weak transcription	Stomach Mucosa	stomach
7	chr2:39607600-39643400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:39608000-39622800	Weak transcription	Fetal Kidney	kidney
9	chr2:39608400-39626200	Weak transcription	Brain Substantia Nigra	brain
10	chr2:39609200-39621600	Weak transcription	Lung	lung
11	chr2:39609400-39621600	Weak transcription	HSMM	muscle
12	chr2:39609600-39621600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:39609600-39621600	Weak transcription	NH-A	brain
14	chr2:39609600-39621600	Weak transcription	Osteobl	bone
15	chr2:39609600-39626400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:39610200-39621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:39610200-39626400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:39613600-39621600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:39613600-39621600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:39613800-39630600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:39614000-39628000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:39614800-39621600	Weak transcription	Pancreas	Pancrea
23	chr2:39615800-39626800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:39616000-39622200	Weak transcription	Fetal Stomach	stomach
25	chr2:39616000-39626400	Weak transcription	Gastric	stomach
26	chr2:39617600-39626200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:39617600-39626400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:39617800-39621600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:39617800-39621600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:39617800-39621600	Weak transcription	Ovary	ovary
31	chr2:39617800-39626200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:39617800-39628200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:39617800-39628400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:39617800-39630600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:39618000-39633400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:39618200-39623200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:39619000-39621800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:39619200-39629600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:39619400-39622400	Weak transcription	Fetal Brain Male	brain
40	chr2:39619800-39625600	Enhancers	HepG2	liver
41	chr2:39620000-39629400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:39620200-39635600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr2:39620400-39622000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:39620400-39622000	Weak transcription	Liver	Liver
45	chr2:39620400-39624600	Weak transcription	Fetal Lung	lung
46	chr2:39620600-39622200	Enhancers	Psoas Muscle	Psoas
47	chr2:39620800-39621800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:39620800-39622000	Enhancers	Right Ventricle	heart
49	chr2:39620800-39622000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr2:39620800-39623400	Enhancers	Skeletal Muscle Male	skeletal muscle

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