Variant report

Variant	rs569063126
Chromosome Location	chr20:1160613-1160614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:1160009..1162327-chr20:1170568..1173359,2	K562	blood:
2	chr20:1159986..1162345-chr20:1366654..1368681,3	K562	blood:
3	chr20:1159350..1161426-chr20:1162832..1165667,4	K562	blood:
4	chr20:1148232..1151978-chr20:1158839..1161914,3	K562	blood:
5	chr20:1099416..1102293-chr20:1159326..1161396,2	K562	blood:
6	chr20:1151539..1154295-chr20:1159812..1162890,3	K562	blood:
7	chr20:1154655..1157619-chr20:1157887..1161625,5	K562	blood:
8	chr20:1148232..1150262-chr20:1159653..1161340,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000125895	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531450	chr20:809607-1221836	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1058524	chr20:821434-1254865	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv544138	chr20:821434-1254865	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1057939	chr20:824980-1316778	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv912585	chr20:992713-1210647	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1057097	chr20:1030940-1314265	Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv517438	chr20:1159472-1161063	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1143000-1161600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr20:1147000-1161400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:1150000-1161800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr20:1150200-1164200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr20:1150600-1163000	Weak transcription	Small Intestine	intestine
6	chr20:1151000-1163000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr20:1151200-1162400	Weak transcription	HMEC	breast
8	chr20:1151800-1162000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr20:1152000-1161600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr20:1152000-1162800	Weak transcription	Fetal Thymus	thymus
11	chr20:1152200-1162800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr20:1152400-1163400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr20:1152600-1161800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr20:1152600-1162200	Weak transcription	Colonic Mucosa	Colon
15	chr20:1152800-1165000	Weak transcription	Brain Substantia Nigra	brain
16	chr20:1153800-1163200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr20:1153800-1165400	Weak transcription	A549	lung
18	chr20:1154000-1162200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr20:1154000-1162200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr20:1154000-1162600	Weak transcription	GM12878-XiMat	blood
21	chr20:1154000-1164200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr20:1155400-1163200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr20:1155800-1161400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr20:1156200-1161000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr20:1156200-1161200	Weak transcription	Fetal Brain Male	brain
26	chr20:1156400-1162400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr20:1156400-1164600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr20:1156400-1165000	Weak transcription	Brain Angular Gyrus	brain
29	chr20:1156600-1161800	Weak transcription	Colon Smooth Muscle	Colon
30	chr20:1156600-1163600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr20:1156600-1165000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr20:1156800-1161600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr20:1156800-1161800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr20:1156800-1163000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr20:1156800-1163800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr20:1157000-1161600	Weak transcription	Gastric	stomach
37	chr20:1157000-1162400	Weak transcription	Ovary	ovary
38	chr20:1157000-1162600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr20:1157000-1163000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr20:1157200-1161400	Weak transcription	Primary B cells from cord blood	blood
41	chr20:1157200-1162000	Weak transcription	NHLF	lung
42	chr20:1157200-1162600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr20:1157200-1163000	Weak transcription	Placenta	Placenta
44	chr20:1157200-1163800	Weak transcription	Esophagus	oesophagus
45	chr20:1157200-1165200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr20:1157400-1162800	Weak transcription	K562	blood
47	chr20:1157400-1163000	Weak transcription	Fetal Lung	lung
48	chr20:1157400-1163800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr20:1157600-1162800	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr20:1157600-1163800	Weak transcription	Right Ventricle	heart

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