Variant report

Variant	rs7571166
Chromosome Location	chr2:231377727-231377728
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	FOXA2	chr2:231377710-231378551	HepG2	liver:	n/a	n/a
2	FOXA2	chr2:231377611-231378340	HepG2	liver:	n/a	n/a
3	FOXA1	chr2:231377609-231378472	HepG2	liver:	n/a	n/a
4	RAD21	chr2:231377615-231377754	HepG2	liver:	n/a	n/a
5	ELF1	chr2:231377585-231378084	HepG2	liver:	n/a	n/a
6	FOXA1	chr2:231377597-231378407	HepG2	liver:	n/a	n/a
7	CTCF	chr2:231377640-231377790	HCPEpiC	choroid plexus:	n/a	n/a

Variant related genes	Relation type
HMGB1P3	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs61733089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6720796	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6749060	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs73098973	1.00[AMR][1000 genomes]
rs7562402	1.00[AMR][1000 genomes]
rs7562968	1.00[AMR][1000 genomes]
rs7589130	1.00[AMR][1000 genomes]
rs7603185	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231355200-231380400	Strong transcription	Adipose Nuclei	Adipose
2	chr2:231355600-231378600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:231355800-231381400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:231357200-231377800	Weak transcription	Stomach Mucosa	stomach
5	chr2:231359600-231380400	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:231361800-231381400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr2:231362200-231378600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:231362400-231378400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:231362400-231378600	Strong transcription	Primary T cells from cord blood	blood
10	chr2:231362600-231378600	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr2:231362600-231380600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:231363800-231380200	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr2:231364200-231381000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:231364600-231385800	Weak transcription	HSMMtube	muscle
15	chr2:231366600-231385200	Weak transcription	HMEC	breast
16	chr2:231366800-231379800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:231367000-231378600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:231368400-231378000	Strong transcription	Spleen	Spleen
19	chr2:231370800-231389600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:231371000-231409800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:231371200-231384600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:231372000-231384600	Weak transcription	Placenta	Placenta
23	chr2:231372400-231379200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:231372400-231386200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:231372600-231378200	Weak transcription	Gastric	stomach
26	chr2:231372600-231379200	Weak transcription	NHLF	lung
27	chr2:231373600-231377800	Strong transcription	Lung	lung
28	chr2:231373600-231378000	Strong transcription	Left Ventricle	heart
29	chr2:231373800-231378000	Strong transcription	Aorta	Aorta
30	chr2:231374400-231378400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr2:231374600-231378600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:231374800-231380200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:231375000-231377800	Weak transcription	HUVEC	blood vessel
34	chr2:231375000-231378000	Weak transcription	Dnd41	blood
35	chr2:231375000-231378400	Weak transcription	Esophagus	oesophagus
36	chr2:231375000-231385600	Weak transcription	HSMM	muscle
37	chr2:231375200-231378600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr2:231375200-231390200	Weak transcription	Ovary	ovary
39	chr2:231376200-231383400	Weak transcription	GM12878-XiMat	blood
40	chr2:231376400-231378200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:231376400-231378600	Weak transcription	Fetal Stomach	stomach
42	chr2:231376400-231379600	Weak transcription	Thymus	Thymus
43	chr2:231376400-231380200	Weak transcription	Fetal Thymus	thymus
44	chr2:231376400-231381200	Strong transcription	Primary B cells from cord blood	blood
45	chr2:231376400-231381800	Weak transcription	NHEK	skin
46	chr2:231376600-231377800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:231376600-231377800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr2:231376600-231378000	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr2:231376600-231378400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr2:231376600-231380000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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