Variant report

Variant	rs57091543
Chromosome Location	chr2:38904766-38904767
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr2:38904760-38905258	HepG2	liver:	n/a	chr2:38904892-38904902
2	CEBPB	chr2:38904722-38905255	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:38895186..38897690-chr2:38903114..38905637,2	K562	blood:
2	chr2:38880141..38882510-chr2:38904571..38906681,2	K562	blood:
3	chr2:38902106..38905477-chr2:38907505..38910142,3	K562	blood:
4	chr2:38903554..38905525-chr2:38909598..38912564,2	MCF-7	breast:
5	chr2:38823625..38826319-chr2:38903588..38906507,3	K562	blood:
6	chr2:38897993..38900823-chr2:38904497..38907341,3	K562	blood:
7	chr2:38893261..38895190-chr2:38902040..38904878,2	K562	blood:

No data

Variant related genes	Relation type
GALM	TF binding region
ENSG00000143891	Chromatin interaction
ENSG00000232518	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11894300	1.00[AMR][1000 genomes]
rs12105066	1.00[AMR][1000 genomes]
rs17023010	1.00[AMR][1000 genomes]
rs59492432	1.00[AMR][1000 genomes]
rs60227216	0.82[AFR][1000 genomes]
rs61048190	1.00[AMR][1000 genomes]
rs73929028	1.00[AMR][1000 genomes]
rs73929071	1.00[AMR][1000 genomes]
rs73929074	1.00[AMR][1000 genomes]
rs73929083	1.00[AMR][1000 genomes]
rs73929101	1.00[AMR][1000 genomes]
rs73931607	1.00[AMR][1000 genomes]
rs7591739	1.00[AMR][1000 genomes]
rs7605576	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873882	chr2:38858669-38921498	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv873883	chr2:38881106-38932777	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38894000-38917600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:38894200-38906800	Weak transcription	Brain Angular Gyrus	brain
3	chr2:38894200-38919000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:38894400-38908600	Weak transcription	Brain Anterior Caudate	brain
5	chr2:38894400-38910400	Weak transcription	Psoas Muscle	Psoas
6	chr2:38894400-38917600	Weak transcription	NHDF-Ad	bronchial
7	chr2:38894400-38960600	Weak transcription	Brain Substantia Nigra	brain
8	chr2:38894600-38908000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:38894600-38919600	Weak transcription	Fetal Heart	heart
10	chr2:38894800-38949400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:38895000-38917600	Weak transcription	HSMM	muscle
12	chr2:38895200-38908600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:38895600-38906800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:38895600-38912400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:38898600-38906800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:38898600-38908200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:38898600-38912400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:38898600-38921200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:38898800-38911600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:38901400-38917000	Weak transcription	HSMMtube	muscle
21	chr2:38901600-38906600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:38902400-38908800	Strong transcription	Primary T cells from cord blood	blood
23	chr2:38902800-38916600	Strong transcription	Fetal Stomach	stomach
24	chr2:38903000-38904800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:38903000-38904800	Strong transcription	Fetal Thymus	thymus
26	chr2:38903000-38904800	Strong transcription	Pancreas	Pancrea
27	chr2:38903000-38905000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:38903000-38905000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:38903000-38905000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:38903000-38905000	Strong transcription	Aorta	Aorta
31	chr2:38903000-38905000	Strong transcription	Colon Smooth Muscle	Colon
32	chr2:38903000-38905000	Strong transcription	Gastric	stomach
33	chr2:38903000-38905000	Strong transcription	Left Ventricle	heart
34	chr2:38903000-38905000	Strong transcription	Lung	lung
35	chr2:38903000-38905000	Strong transcription	Rectal Smooth Muscle	rectum
36	chr2:38903000-38905000	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:38903000-38905200	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:38903000-38905400	Genic enhancers	Primary T cells fromperipheralblood	blood
39	chr2:38903000-38905400	Strong transcription	Adipose Nuclei	Adipose
40	chr2:38903000-38906000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
41	chr2:38903000-38907000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:38903000-38907200	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr2:38903000-38907600	Strong transcription	Ovary	ovary
44	chr2:38903000-38908800	Strong transcription	Thymus	Thymus
45	chr2:38903000-38909200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:38903000-38909200	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr2:38903000-38909400	Strong transcription	Primary B cells from peripheral blood	blood
48	chr2:38903000-38909400	Strong transcription	Osteobl	bone
49	chr2:38903000-38909600	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:38903000-38909600	Strong transcription	Fetal Lung	lung

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