Variant report

Variant	rs553811757
Chromosome Location	chr3:150480545-150480546
allele	A/G
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150318777..150323048-chr3:150479715..150482584,4	K562	blood:
2	chr3:149094494..149095113-chr3:150480059..150480937,2	Hela-S3	cervix:
3	chr3:150328265..150331845-chr3:150479203..150481571,3	K562	blood:
4	chr12:123717282..123717840-chr3:150480496..150481372,2	Hela-S3	cervix:
5	chr1:165600104..165600758-chr3:150480533..150481145,2	Hela-S3	cervix:
6	chr3:150480540..150481237-chr6:26020610..26021240,2	Hela-S3	cervix:
7	chr12:112037035..112037635-chr3:150480512..150481076,2	Hela-S3	cervix:
8	chr3:101280431..101281099-chr3:150480190..150481106,2	Hela-S3	cervix:
9	chr3:150319550..150322084-chr3:150479715..150481431,2	K562	blood:
10	chr3:150480176..150481089-chr5:40680039..40680660,2	Hela-S3	cervix:
11	chr3:150399970..150401503-chr3:150480432..150482241,2	K562	blood:
12	chr3:150263797..150265530-chr3:150478854..150481327,3	MCF-7	breast:
13	chr3:150480434..150481052-chr7:45960362..45960974,2	Hela-S3	cervix:
14	chr3:150319354..150323687-chr3:150477863..150484487,11	MCF-7	breast:
15	chr1:161087567..161088346-chr3:150480467..150481143,2	Hela-S3	cervix:
16	chr3:150479690..150481282-chr6:76352345..76354574,2	MCF-7	breast:
17	chr3:150421205..150424923-chr3:150480120..150484463,5	MCF-7	breast:
18	chr3:150261800..150265866-chr3:150477764..150484308,7	MCF-7	breast:
19	chr15:71588021..71588700-chr3:150480360..150481079,2	Hela-S3	cervix:
20	chr3:150125257..150128558-chr3:150478258..150482422,4	K562	blood:
21	chr11:65340013..65340621-chr3:150479913..150480913,2	Hela-S3	cervix:
22	chr3:150318641..150323079-chr3:150479217..150482794,6	MCF-7	breast:
23	chr3:150433681..150449199-chr3:150473254..150487048,35	MCF-7	breast:
24	chr3:150419019..150423394-chr3:150479448..150481415,4	MCF-7	breast:
25	chr3:150480179..150481920-chr5:81573122..81575962,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000186468	Chromatin interaction
ENSG00000252498	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000205464	Chromatin interaction
ENSG00000144895	Chromatin interaction
ENSG00000163645	Chromatin interaction
ENSG00000258099	Chromatin interaction
ENSG00000198366	Chromatin interaction
ENSG00000143256	Chromatin interaction
ENSG00000174173	Chromatin interaction
ENSG00000198843	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000158793	Chromatin interaction
ENSG00000240137	Chromatin interaction
ENSG00000196428	Chromatin interaction
ENSG00000271711	Chromatin interaction
ENSG00000244668	Chromatin interaction
ENSG00000204842	Chromatin interaction
ENSG00000143198	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000146674	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv592035	chr3:150478018-150481021	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
3	nsv592036	chr3:150478018-150481236	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a
4	esv1820145	chr3:150478018-150487945	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	esv3420624	chr3:150478562-150482960	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3375203	chr3:150479287-150481835	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150478000-150482000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr3:150478000-150482200	Active TSS	Thymus	Thymus
3	chr3:150478200-150480800	Active TSS	Right Atrium	heart
4	chr3:150478200-150481400	Active TSS	Primary T cells fromperipheralblood	blood
5	chr3:150478200-150481600	Active TSS	Colonic Mucosa	Colon
6	chr3:150478200-150482000	Active TSS	Ovary	ovary
7	chr3:150478200-150482200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:150478200-150482200	Active TSS	Right Ventricle	heart
9	chr3:150478200-150482200	Active TSS	NHDF-Ad	bronchial
10	chr3:150478200-150482400	Active TSS	Placenta	Placenta
11	chr3:150478200-150482400	Active TSS	GM12878-XiMat	blood
12	chr3:150478400-150482000	Active TSS	HSMM	muscle
13	chr3:150478400-150482200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:150478400-150482200	Active TSS	HSMMtube	muscle
15	chr3:150478400-150482600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:150478600-150481800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:150478600-150482000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:150478600-150482000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:150478600-150482200	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr3:150478600-150482200	Active TSS	Aorta	Aorta
21	chr3:150478600-150482400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:150478600-150482600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:150478800-150481600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:150478800-150481600	Active TSS	HMEC	breast
25	chr3:150478800-150481800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:150478800-150481800	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr3:150478800-150482000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:150478800-150482000	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr3:150478800-150482000	Active TSS	K562	blood
30	chr3:150478800-150482200	Active TSS	Psoas Muscle	Psoas
31	chr3:150478800-150482200	Active TSS	NHLF	lung
32	chr3:150479000-150481400	Active TSS	Fetal Muscle Trunk	muscle
33	chr3:150479000-150481600	Active TSS	Duodenum Mucosa	Duodenum
34	chr3:150479000-150481800	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr3:150479000-150482000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:150479000-150482200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr3:150479000-150482200	Active TSS	Brain Germinal Matrix	brain
38	chr3:150479200-150481600	Active TSS	NH-A	brain
39	chr3:150479200-150481600	Active TSS	NHEK	skin
40	chr3:150479200-150481800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr3:150479200-150481800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr3:150479200-150481800	Active TSS	Muscle Satellite Cultured Cells	--
43	chr3:150479200-150481800	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr3:150479200-150481800	Active TSS	Rectal Smooth Muscle	rectum
45	chr3:150479200-150482000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr3:150479200-150482000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr3:150479200-150482000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr3:150479200-150482200	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr3:150479200-150482200	Active TSS	Fetal Muscle Leg	muscle
50	chr3:150479200-150482200	Active TSS	A549	lung

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