Variant report

Variant	rs4151424
Chromosome Location	chr13:48880262-48880263
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	MAFK	chr13:48880092-48880413	HepG2	liver:	n/a	chr13:48880250-48880265
2	MAFK	chr13:48880114-48880422	HepG2	liver:	n/a	chr13:48880250-48880265
3	POLR2A	chr13:48876411-48880767	GM12891	blood:	n/a	n/a
4	POLR2A	chr13:48879825-48880511	GM12878	blood:	n/a	n/a
5	MAFF	chr13:48880187-48880387	HepG2	liver:	n/a	chr13:48880248-48880266
6	MAFK	chr13:48880087-48880287	Hela-S3	cervix:	n/a	chr13:48880250-48880265
7	POLR2A	chr13:48879830-48880542	GM12878	blood:	n/a	n/a
8	RCOR1	chr13:48879828-48880303	K562	blood:	n/a	n/a
9	MAFK	chr13:48880082-48880418	IMR90	lung:	n/a	chr13:48880250-48880265

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48877164..48879255-chr13:48879403..48881439,2	K562	blood:
2	chr13:48879143..48880782-chr13:48887073..48889128,2	K562	blood:

Variant related genes	Relation type
LINC00441	TF binding region
ENSG00000231473	Chromatin interaction
ENSG00000139687	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs174858	1.00[CEU][hapmap]
rs198580	1.00[CEU][hapmap]
rs198582	1.00[CEU][hapmap]
rs198589	1.00[CEU][hapmap]
rs2156910	1.00[CEU][hapmap]
rs367438	1.00[CEU][hapmap]
rs4151420	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4151421	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4151425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4151426	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4151430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4151433	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4151436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4151440	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4151445	1.00[EUR][1000 genomes]
rs4151463	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4151469	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4151475	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4151480	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4151484	0.86[EUR][1000 genomes]
rs4151498	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4151505	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4151529	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4151536	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4151555	1.00[EUR][1000 genomes]
rs4151560	1.00[EUR][1000 genomes]
rs4151564	1.00[EUR][1000 genomes]
rs4151567	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4151569	0.86[EUR][1000 genomes]
rs4151578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4151610	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4151615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4151624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs449151	1.00[CEU][hapmap]
rs449268	1.00[CEU][hapmap]
rs7325162	1.00[EUR][1000 genomes]
rs7326934	1.00[CEU][hapmap]
rs73490887	0.86[EUR][1000 genomes]
rs9316386	1.00[CEU][hapmap]
rs9331953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9331968	1.00[EUR][1000 genomes]
rs9331980	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9331999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332031	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332037	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332049	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332253	0.83[EUR][1000 genomes]
rs9332258	0.83[EUR][1000 genomes]
rs9332273	0.83[EUR][1000 genomes]
rs9332280	1.00[CEU][hapmap]
rs9332282	0.83[EUR][1000 genomes]
rs9332303	1.00[CEU][hapmap];0.83[EUR][1000 genomes]

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48878400-48880400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr13:48878800-48880400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr13:48878800-48890800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:48879000-48880600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr13:48879000-48880800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
6	chr13:48879000-48880800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr13:48879000-48882600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:48879000-48891000	Weak transcription	Esophagus	oesophagus
9	chr13:48879200-48880400	Enhancers	Stomach Mucosa	stomach
10	chr13:48879200-48880600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr13:48879200-48880600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr13:48879200-48880600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr13:48879200-48880600	Active TSS	Rectal Smooth Muscle	rectum
14	chr13:48879400-48880400	Enhancers	Liver	Liver
15	chr13:48879400-48880400	Enhancers	Duodenum Mucosa	Duodenum
16	chr13:48879400-48880400	Enhancers	Fetal Brain Female	brain
17	chr13:48879400-48880600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr13:48879400-48880600	Enhancers	Brain Hippocampus Middle	brain
19	chr13:48879400-48880800	Enhancers	Primary T cells from cord blood	blood
20	chr13:48879400-48880800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr13:48879400-48880800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr13:48879400-48880800	Enhancers	Brain Angular Gyrus	brain
23	chr13:48879400-48881200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr13:48879400-48883600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr13:48879400-48890000	Weak transcription	Fetal Brain Male	brain
26	chr13:48879400-48890000	Weak transcription	Fetal Intestine Large	intestine
27	chr13:48879400-48894200	Weak transcription	A549	lung
28	chr13:48879600-48880600	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
29	chr13:48879600-48880600	Enhancers	Ovary	ovary
30	chr13:48879600-48880600	Enhancers	Psoas Muscle	Psoas
31	chr13:48879600-48880600	Enhancers	Right Ventricle	heart
32	chr13:48879600-48880600	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr13:48879600-48880800	Enhancers	NHEK	skin
34	chr13:48879600-48881200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr13:48879600-48884800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr13:48879600-48889400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr13:48879800-48880400	Enhancers	Primary hematopoietic stem cells	blood
38	chr13:48879800-48880400	Enhancers	Gastric	stomach
39	chr13:48879800-48880400	Genic enhancers	Lung	lung
40	chr13:48879800-48880400	Flanking Active TSS	Hela-S3	cervix
41	chr13:48879800-48880600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr13:48879800-48880600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr13:48879800-48880600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr13:48879800-48880600	Enhancers	Adipose Nuclei	Adipose
45	chr13:48879800-48880600	Enhancers	Pancreas	Pancrea
46	chr13:48879800-48880800	Genic enhancers	Primary monocytes fromperipheralblood	blood
47	chr13:48879800-48880800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr13:48879800-48880800	Enhancers	Small Intestine	intestine
49	chr13:48879800-48880800	Genic enhancers	Thymus	Thymus
50	chr13:48879800-48880800	Enhancers	Spleen	Spleen

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