Variant report

Variant	rs72727984
Chromosome Location	chr4:147165287-147165288
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:147164316..147165957-chr4:147168018..147169690,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12502664	1.00[ASN][1000 genomes]
rs57251201	1.00[ASN][1000 genomes]
rs59746748	1.00[ASN][1000 genomes]
rs72727915	1.00[ASN][1000 genomes]
rs72727929	1.00[ASN][1000 genomes]
rs72727933	1.00[ASN][1000 genomes]
rs72727934	1.00[ASN][1000 genomes]
rs72727994	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72727996	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72727998	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72729813	1.00[ASN][1000 genomes]
rs72729816	1.00[ASN][1000 genomes]
rs72729818	1.00[ASN][1000 genomes]
rs72729836	1.00[ASN][1000 genomes]
rs72729839	1.00[ASN][1000 genomes]
rs72729863	1.00[ASN][1000 genomes]
rs72729867	1.00[ASN][1000 genomes]
rs72729884	1.00[ASN][1000 genomes]
rs72729891	1.00[ASN][1000 genomes]
rs72729896	1.00[ASN][1000 genomes]
rs72729898	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147162200-147167400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr4:147162200-147167600	Enhancers	Fetal Lung	lung
3	chr4:147162200-147167600	Enhancers	Fetal Muscle Leg	muscle
4	chr4:147162400-147165400	Enhancers	GM12878-XiMat	blood
5	chr4:147162600-147167000	Enhancers	Placenta	Placenta
6	chr4:147163200-147165400	Enhancers	Small Intestine	intestine
7	chr4:147163200-147166400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:147163200-147178000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr4:147163400-147166200	Enhancers	Right Ventricle	heart
10	chr4:147163600-147165800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:147163600-147166200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:147163600-147167200	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr4:147163600-147167200	Enhancers	Stomach Mucosa	stomach
14	chr4:147163800-147165400	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr4:147163800-147166200	Weak transcription	Aorta	Aorta
16	chr4:147163800-147166600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:147163800-147166600	Weak transcription	A549	lung
18	chr4:147163800-147166800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr4:147163800-147176000	Weak transcription	HSMM	muscle
20	chr4:147164000-147167400	Enhancers	Stomach Smooth Muscle	stomach
21	chr4:147164000-147168400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:147164200-147165400	Enhancers	Primary B cells from peripheral blood	blood
23	chr4:147164200-147166600	Enhancers	Fetal Thymus	thymus
24	chr4:147164200-147166800	Enhancers	Esophagus	oesophagus
25	chr4:147164400-147165400	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr4:147164400-147165400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr4:147164400-147166000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:147164400-147166000	Weak transcription	NHLF	lung
29	chr4:147164400-147166400	Weak transcription	Fetal Intestine Large	intestine
30	chr4:147164400-147166600	Enhancers	Lung	lung
31	chr4:147164400-147166800	Enhancers	Spleen	Spleen
32	chr4:147164600-147166000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr4:147164600-147166000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr4:147164600-147166400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:147164600-147166600	Weak transcription	Osteobl	bone
36	chr4:147164600-147166800	Weak transcription	NH-A	brain
37	chr4:147164600-147168400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr4:147164800-147165400	Enhancers	Fetal Heart	heart
39	chr4:147164800-147165800	Weak transcription	Ovary	ovary
40	chr4:147164800-147166200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:147164800-147166200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr4:147164800-147166400	Weak transcription	Pancreas	Pancrea
43	chr4:147164800-147166800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr4:147164800-147167000	Enhancers	Right Atrium	heart
45	chr4:147164800-147167800	Enhancers	Adipose Nuclei	Adipose
46	chr4:147164800-147169400	Weak transcription	HUVEC	blood vessel
47	chr4:147164800-147177200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr4:147164800-147207200	Weak transcription	Thymus	Thymus
49	chr4:147165000-147165400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:147165000-147165400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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