Variant report

Variant	rs57982206
Chromosome Location	chr4:122752654-122752655
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	chr4:122745006..122746599-chr4:122752412..122755944,3	K562	blood:
2	chr4:122750402..122752762-chr4:122764492..122767192,2	K562	blood:

Variant related genes	Relation type
ENSG00000145386	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57064484	0.81[AFR][1000 genomes]
rs59345474	0.90[AFR][1000 genomes]
rs60084481	0.90[AFR][1000 genomes]
rs72919912	1.00[AFR][1000 genomes]
rs72919944	0.90[AFR][1000 genomes]
rs72919946	0.90[AFR][1000 genomes]
rs72919967	0.90[AFR][1000 genomes]
rs72919972	0.90[AFR][1000 genomes]
rs72919975	0.90[AFR][1000 genomes]
rs72919980	0.90[AFR][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	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122745400-122753200	Weak transcription	Lung	lung
2	chr4:122745400-122767200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:122745400-122777600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:122745400-122790400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:122745400-122790600	Weak transcription	Small Intestine	intestine
6	chr4:122745600-122758000	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:122745600-122758600	Weak transcription	Fetal Kidney	kidney
8	chr4:122745600-122759800	Weak transcription	Fetal Thymus	thymus
9	chr4:122745600-122760400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:122745600-122762000	Weak transcription	Aorta	Aorta
11	chr4:122745600-122764000	Weak transcription	Colonic Mucosa	Colon
12	chr4:122745600-122766200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr4:122745600-122766600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:122745600-122767200	Weak transcription	Esophagus	oesophagus
15	chr4:122745600-122767200	Weak transcription	Right Ventricle	heart
16	chr4:122745600-122767800	Weak transcription	Pancreas	Pancrea
17	chr4:122745600-122767800	Weak transcription	Thymus	Thymus
18	chr4:122745600-122769200	Weak transcription	Hela-S3	cervix
19	chr4:122745600-122770000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr4:122745600-122781600	Weak transcription	Placenta	Placenta
21	chr4:122745600-122790400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr4:122745600-122790600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:122745600-122790800	Weak transcription	Psoas Muscle	Psoas
24	chr4:122745800-122753000	Weak transcription	Brain Angular Gyrus	brain
25	chr4:122745800-122753200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr4:122745800-122753200	Weak transcription	Liver	Liver
27	chr4:122745800-122753800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr4:122745800-122754200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr4:122745800-122754200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:122745800-122754400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:122745800-122754400	Weak transcription	HMEC	breast
32	chr4:122745800-122758000	Weak transcription	Fetal Muscle Leg	muscle
33	chr4:122745800-122758400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr4:122745800-122758800	Weak transcription	HUVEC	blood vessel
35	chr4:122745800-122759800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr4:122745800-122761600	Weak transcription	Brain Substantia Nigra	brain
37	chr4:122745800-122764000	Weak transcription	Brain Hippocampus Middle	brain
38	chr4:122745800-122765600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr4:122745800-122765600	Weak transcription	Fetal Heart	heart
40	chr4:122745800-122766600	Weak transcription	Fetal Brain Male	brain
41	chr4:122745800-122766600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr4:122745800-122766800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr4:122745800-122767200	Weak transcription	HSMMtube	muscle
44	chr4:122745800-122767400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr4:122745800-122768600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:122745800-122770200	Weak transcription	GM12878-XiMat	blood
47	chr4:122745800-122772000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr4:122745800-122779200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr4:122745800-122781200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr4:122745800-122786800	Weak transcription	A549	lung

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