Variant report

Variant	rs2854352
Chromosome Location	chr13:48879905-48879906
allele	A/G
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	chr13:48879897-48880059	K562	blood:	n/a	n/a
2	POLR2A	chr13:48876411-48880767	GM12891	blood:	n/a	n/a
3	POLR2A	chr13:48879825-48880511	GM12878	blood:	n/a	n/a
4	ELK1	chr13:48879834-48879931	K562	blood:	n/a	n/a
5	POLR2A	chr13:48879830-48880542	GM12878	blood:	n/a	n/a
6	RCOR1	chr13:48879828-48880303	K562	blood:	n/a	n/a
7	CTCF	chr13:48879905-48880029	GM10266	blood:	n/a	n/a
8	POLR2A	chr13:48879861-48879967	K562	blood:	n/a	n/a
9	POLR2A	chr13:48879812-48880203	GM12878	blood:	n/a	n/a
10	CTCF	chr13:48879903-48879934	Lung_OC	lung:	n/a	n/a

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: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11840676	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs171989	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs185587	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs198559	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs198565	0.92[EUR][1000 genomes]
rs198566	0.92[EUR][1000 genomes]
rs198567	0.92[EUR][1000 genomes]
rs198572	0.92[EUR][1000 genomes]
rs198573	1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs198583	0.92[EUR][1000 genomes]
rs198587	0.92[EUR][1000 genomes]
rs198600	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs198601	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs198613	0.92[EUR][1000 genomes]
rs198616	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs198617	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs198618	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs198626	0.85[AMR][1000 genomes]
rs198628	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs198632	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs198636	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2097211	1.00[CHB][hapmap]
rs2245534	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2265777	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2406932	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515668	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2804082	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2804084	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2804085	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2804086	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2804087	0.92[EUR][1000 genomes]
rs2804088	0.92[EUR][1000 genomes]
rs2804089	0.92[EUR][1000 genomes]
rs2804091	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2804092	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2854354	0.83[AMR][1000 genomes]
rs2854356	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2854363	0.92[EUR][1000 genomes]
rs2854364	0.92[EUR][1000 genomes]
rs2854365	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2984828	0.92[EUR][1000 genomes]
rs3020646	1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs411661	0.84[EUR][1000 genomes]
rs411862	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4151590	0.84[EUR][1000 genomes]
rs416156	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs428431	0.92[EUR][1000 genomes]
rs4625624	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs547747	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61507973	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7318012	1.00[EUR][1000 genomes]
rs7990103	0.92[EUR][1000 genomes]
rs8001351	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9285166	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316371	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332248	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332281	1.00[EUR][1000 genomes]
rs9562817	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9591153	1.00[EUR][1000 genomes]
rs9591154	1.00[EUR][1000 genomes]
rs9591155	1.00[EUR][1000 genomes]
rs9591163	0.92[EUR][1000 genomes]
rs9595872	0.83[EUR][1000 genomes]
rs9595894	0.92[EUR][1000 genomes]
rs9595909	0.92[EUR][1000 genomes]
rs9595910	0.92[EUR][1000 genomes]

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48876800-48880000	Active TSS	K562	blood
2	chr13:48876800-48880200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:48877000-48880000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:48877000-48880000	Active TSS	HSMMtube	muscle
5	chr13:48877000-48880200	Active TSS	Muscle Satellite Cultured Cells	--
6	chr13:48877000-48880200	Active TSS	NHLF	lung
7	chr13:48877200-48880000	Active TSS	Aorta	Aorta
8	chr13:48877200-48880200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:48877400-48880000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr13:48878400-48880000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr13:48878400-48880400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:48878800-48880000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:48878800-48880200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr13:48878800-48880400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr13:48878800-48890800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:48879000-48880000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr13:48879000-48880000	Flanking Active TSS	HUVEC	blood vessel
18	chr13:48879000-48880200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:48879000-48880200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:48879000-48880200	Flanking Active TSS	GM12878-XiMat	blood
21	chr13:48879000-48880600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr13:48879000-48880800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
23	chr13:48879000-48880800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr13:48879000-48882600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr13:48879000-48891000	Weak transcription	Esophagus	oesophagus
26	chr13:48879200-48880000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr13:48879200-48880000	Weak transcription	Placenta	Placenta
28	chr13:48879200-48880200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr13:48879200-48880200	Enhancers	Fetal Heart	heart
30	chr13:48879200-48880400	Enhancers	Stomach Mucosa	stomach
31	chr13:48879200-48880600	Enhancers	Primary T cells fromperipheralblood	blood
32	chr13:48879200-48880600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr13:48879200-48880600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr13:48879200-48880600	Active TSS	Rectal Smooth Muscle	rectum
35	chr13:48879400-48880000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr13:48879400-48880000	Active TSS	Colon Smooth Muscle	Colon
37	chr13:48879400-48880000	Enhancers	Fetal Intestine Small	intestine
38	chr13:48879400-48880000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr13:48879400-48880000	Weak transcription	Left Ventricle	heart
40	chr13:48879400-48880000	Flanking Active TSS	Osteobl	bone
41	chr13:48879400-48880200	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr13:48879400-48880200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr13:48879400-48880200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr13:48879400-48880200	Enhancers	Brain Anterior Caudate	brain
45	chr13:48879400-48880200	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr13:48879400-48880200	Enhancers	Fetal Lung	lung
47	chr13:48879400-48880200	Enhancers	Fetal Stomach	stomach
48	chr13:48879400-48880200	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr13:48879400-48880200	Active TSS	NH-A	brain
50	chr13:48879400-48880400	Enhancers	Liver	Liver

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