Variant report

Variant	rs4151427
Chromosome Location	chr13:48880998-48880999
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	FOXA1	chr13:48880910-48881410	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48877164..48879255-chr13:48879403..48881439,2	K562	blood:
2	chr13:48880616..48882681-chr13:48883191..48885287,2	MCF-7	breast:

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

rs_ID	r²[population]
rs17071516	0.86[AFR][1000 genomes]
rs2897585	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs3092869	1.00[AFR][1000 genomes]
rs3092885	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4151443	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4151444	1.00[AFR][1000 genomes]
rs4151504	1.00[YRI][hapmap]
rs4151518	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4151607	0.87[YRI][hapmap]
rs9332078	0.85[YRI][hapmap]
rs9332263	0.86[AFR][1000 genomes]

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48878800-48890800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:48879000-48882600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:48879000-48891000	Weak transcription	Esophagus	oesophagus
4	chr13:48879400-48881200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:48879400-48883600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr13:48879400-48890000	Weak transcription	Fetal Brain Male	brain
7	chr13:48879400-48890000	Weak transcription	Fetal Intestine Large	intestine
8	chr13:48879400-48894200	Weak transcription	A549	lung
9	chr13:48879600-48881200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr13:48879600-48884800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:48879600-48889400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr13:48879800-48892400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr13:48880000-48881000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:48880000-48881400	Weak transcription	HSMM	muscle
15	chr13:48880000-48886000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr13:48880000-48888000	Weak transcription	K562	blood
17	chr13:48880000-48889400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:48880000-48892000	Weak transcription	HSMMtube	muscle
19	chr13:48880200-48881200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:48880200-48881200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr13:48880200-48881200	Enhancers	HepG2	liver
22	chr13:48880200-48881400	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr13:48880200-48881400	Active TSS	GM12878-XiMat	blood
24	chr13:48880200-48881600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr13:48880200-48881600	Weak transcription	Fetal Stomach	stomach
26	chr13:48880200-48882800	Strong transcription	Fetal Intestine Small	intestine
27	chr13:48880200-48886800	Weak transcription	Fetal Heart	heart
28	chr13:48880200-48888000	Weak transcription	Fetal Lung	lung
29	chr13:48880200-48889200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr13:48880200-48890600	Weak transcription	NHLF	lung
31	chr13:48880200-48891400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr13:48880200-48892200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr13:48880200-48892200	Weak transcription	Fetal Kidney	kidney
34	chr13:48880200-48892200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr13:48880200-48892600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr13:48880200-48892600	Weak transcription	NH-A	brain
37	chr13:48880200-48893800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr13:48880200-48894400	Weak transcription	Brain Anterior Caudate	brain
39	chr13:48880200-48913200	Weak transcription	Aorta	Aorta
40	chr13:48880400-48881000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr13:48880400-48881800	Weak transcription	Liver	Liver
42	chr13:48880400-48889600	Weak transcription	Fetal Brain Female	brain
43	chr13:48880400-48890200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr13:48880400-48890400	Weak transcription	Gastric	stomach
45	chr13:48880400-48890400	Weak transcription	Lung	lung
46	chr13:48880400-48890800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr13:48880400-48891000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr13:48880400-48891200	Weak transcription	Placenta	Placenta
49	chr13:48880400-48892400	Weak transcription	HMEC	breast
50	chr13:48880400-48892600	Weak transcription	Primary hematopoietic stem cells	blood

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