Variant report

Variant	rs41394246
Chromosome Location	chr20:23066853-23066854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23064609..23066913-chr20:23084404..23086526,2	K562	blood:

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

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

rs_ID	r²[population]
rs41489050	1.00[AMR][1000 genomes]
rs844809	1.00[AMR][1000 genomes]
rs844812	1.00[AMR][1000 genomes]
rs844818	1.00[AMR][1000 genomes]

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	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv526474	chr20:23065209-23073904	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23062400-23067000	Active TSS	Right Ventricle	heart
2	chr20:23062400-23067400	Enhancers	Fetal Lung	lung
3	chr20:23062800-23067000	Active TSS	Left Ventricle	heart
4	chr20:23062800-23067000	Active TSS	Psoas Muscle	Psoas
5	chr20:23062800-23067600	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr20:23063000-23067000	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr20:23063000-23067200	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr20:23063200-23067000	Active TSS	Placenta	Placenta
9	chr20:23063400-23067000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr20:23063400-23067600	Active TSS	Duodenum Mucosa	Duodenum
11	chr20:23063800-23067000	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr20:23063800-23067200	Active TSS	Brain Hippocampus Middle	brain
13	chr20:23063800-23067400	Active TSS	Liver	Liver
14	chr20:23064000-23067000	Active TSS	Fetal Intestine Small	intestine
15	chr20:23064000-23067000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr20:23064000-23067400	Flanking Active TSS	Fetal Thymus	thymus
17	chr20:23064000-23067400	Active TSS	Rectal Smooth Muscle	rectum
18	chr20:23064000-23072000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr20:23064200-23067000	Active TSS	Fetal Intestine Large	intestine
20	chr20:23064200-23072000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr20:23064200-23072400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr20:23064400-23067200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr20:23064600-23067000	Active TSS	Colonic Mucosa	Colon
24	chr20:23064600-23067000	Active TSS	Pancreas	Pancrea
25	chr20:23064600-23068600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr20:23064800-23067000	Weak transcription	Colon Smooth Muscle	Colon
27	chr20:23065000-23067200	Active TSS	Lung	lung
28	chr20:23065000-23067800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr20:23065200-23067000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
30	chr20:23065800-23068400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr20:23066000-23067400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr20:23066000-23067800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr20:23066000-23075800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr20:23066200-23067200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr20:23066200-23067400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr20:23066400-23067000	Active TSS	Primary T cells from cord blood	blood
37	chr20:23066600-23067000	Flanking Active TSS	Esophagus	oesophagus
38	chr20:23066600-23067000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
39	chr20:23066600-23067000	Flanking Active TSS	Right Atrium	heart
40	chr20:23066600-23067000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr20:23066600-23067000	Flanking Active TSS	Spleen	Spleen
42	chr20:23066600-23067200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr20:23066600-23067200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr20:23066600-23067200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
45	chr20:23066600-23067200	Enhancers	Ovary	ovary
46	chr20:23066600-23067400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
47	chr20:23066600-23067600	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr20:23066600-23067600	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr20:23066600-23067600	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr20:23066600-23067800	Flanking Active TSS	Primary B cells from cord blood	blood

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