Variant report

Variant	rs60338814
Chromosome Location	chr3:48890229-48890230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr3:48890048-48890347	GM12878	blood:	n/a	chr3:48890180-48890191 chr3:48890181-48890191
2	BATF	chr3:48890074-48890265	GM12878	blood:	n/a	chr3:48890180-48890191 chr3:48890181-48890191

No.	Distal block	Cell Line	Cell type
1	chr3:48888988..48891148-chr3:48893552..48896114,2	K562	blood:
2	chr3:48884696..48886781-chr3:48890066..48891574,2	MCF-7	breast:
3	chr3:48882052..48887355-chr3:48887681..48893088,6	K562	blood:

Variant related genes	Relation type
PRKAR2A	TF binding region
ENSG00000178537	Chromatin interaction
ENSG00000114302	Chromatin interaction
ENSG00000224424	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs13318132	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs14828	1.00[EUR][1000 genomes]
rs28523319	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28615670	1.00[EUR][1000 genomes]
rs4527417	1.00[EUR][1000 genomes]
rs58708931	1.00[EUR][1000 genomes]
rs58835493	1.00[EUR][1000 genomes]
rs58914641	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58998762	1.00[EUR][1000 genomes]
rs59352296	1.00[EUR][1000 genomes]
rs60352528	1.00[EUR][1000 genomes]
rs61008775	1.00[EUR][1000 genomes]
rs61744082	1.00[EUR][1000 genomes]
rs6791777	1.00[EUR][1000 genomes]
rs72930094	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72931155	1.00[EUR][1000 genomes]
rs72931157	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72931171	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72934791	1.00[EUR][1000 genomes]
rs72936804	1.00[EUR][1000 genomes]
rs72936810	1.00[EUR][1000 genomes]
rs72936890	1.00[EUR][1000 genomes]
rs73830466	1.00[EUR][1000 genomes]
rs73830478	1.00[EUR][1000 genomes]
rs73833525	1.00[EUR][1000 genomes]
rs9811460	1.00[EUR][1000 genomes]
rs9820609	1.00[EUR][1000 genomes]
rs9833422	1.00[EUR][1000 genomes]
rs9860187	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9875203	1.00[EUR][1000 genomes]
rs9876812	1.00[EUR][1000 genomes]
rs9877045	1.00[EUR][1000 genomes]
rs9882714	0.83[AMR][1000 genomes];1.00[EUR][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	esv3487342	chr3:48823957-48960475	Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	esv3487343	chr3:48823963-48960381	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48885600-48893200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:48885600-48915000	Weak transcription	Small Intestine	intestine
3	chr3:48885800-48890800	Weak transcription	Fetal Intestine Large	intestine
4	chr3:48885800-48892600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr3:48885800-48893200	Weak transcription	Left Ventricle	heart
6	chr3:48885800-48893200	Weak transcription	Thymus	Thymus
7	chr3:48885800-48893400	Weak transcription	Fetal Thymus	thymus
8	chr3:48885800-48893400	Weak transcription	Lung	lung
9	chr3:48885800-48894000	Weak transcription	Aorta	Aorta
10	chr3:48885800-48894000	Weak transcription	Gastric	stomach
11	chr3:48885800-48894000	Weak transcription	Psoas Muscle	Psoas
12	chr3:48885800-48896400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:48885800-48896400	Weak transcription	Ovary	ovary
14	chr3:48885800-48899600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:48885800-48900600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:48885800-48906600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:48885800-48913600	Weak transcription	Fetal Lung	lung
18	chr3:48886000-48890800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr3:48886000-48891400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr3:48886000-48893200	Weak transcription	Right Ventricle	heart
21	chr3:48886000-48893800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr3:48886000-48893800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr3:48886000-48893800	Weak transcription	Colonic Mucosa	Colon
24	chr3:48886000-48895600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:48886000-48895600	Weak transcription	Placenta	Placenta
26	chr3:48886000-48895800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr3:48886000-48896000	Weak transcription	Stomach Mucosa	stomach
28	chr3:48886000-48897800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr3:48886000-48899000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr3:48886000-48899600	Weak transcription	NHEK	skin
31	chr3:48886000-48899800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:48886200-48890600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr3:48886200-48891200	Weak transcription	HSMM	muscle
34	chr3:48886200-48891400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr3:48886200-48892600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr3:48886200-48892800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr3:48886200-48893200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr3:48886200-48893400	Weak transcription	Colon Smooth Muscle	Colon
39	chr3:48886200-48893600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr3:48886200-48893800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:48886200-48893800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr3:48886200-48893800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:48886200-48894600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:48886200-48894600	Weak transcription	Primary B cells from cord blood	blood
45	chr3:48886200-48894600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:48886200-48895600	Weak transcription	Esophagus	oesophagus
47	chr3:48886200-48895800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr3:48886200-48895800	Weak transcription	HSMMtube	muscle
49	chr3:48886200-48896000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr3:48886200-48900000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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