Variant report

Variant	rs59108338
Chromosome Location	chr2:178211915-178211916
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	chr2:178211664-178212212	HepG2	liver:	n/a	n/a
2	FOXA1	chr2:178211845-178212246	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178208561..178210378-chr2:178211576..178213498,2	K562	blood:
2	chr2:178206491..178209645-chr2:178210919..178214374,3	K562	blood:

Variant related genes	Relation type
ENSG00000238295	TF binding region
ENSG00000237178	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10187221	0.90[EUR][1000 genomes]
rs10187323	0.90[EUR][1000 genomes]
rs10497507	0.81[EUR][1000 genomes]
rs13394038	0.90[EUR][1000 genomes]
rs13429924	0.90[EUR][1000 genomes]
rs16865163	0.90[EUR][1000 genomes]
rs16865184	0.81[EUR][1000 genomes]
rs16865226	0.81[EUR][1000 genomes]
rs56174568	0.90[EUR][1000 genomes]
rs56181372	0.90[EUR][1000 genomes]
rs59549243	0.90[EUR][1000 genomes]
rs73979713	0.90[EUR][1000 genomes]
rs73979718	0.90[EUR][1000 genomes]
rs73979720	0.81[EUR][1000 genomes]
rs73979722	0.90[EUR][1000 genomes]
rs73979724	0.90[EUR][1000 genomes]
rs73979728	0.90[EUR][1000 genomes]
rs7581364	0.90[EUR][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	nsv3051	chr2:178193436-178239394	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178187600-178216400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:178187800-178216400	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:178195200-178213600	Weak transcription	Gastric	stomach
4	chr2:178197200-178212000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:178197200-178213400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:178197200-178215000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:178197200-178216800	Weak transcription	Primary T cells from cord blood	blood
8	chr2:178197200-178217600	Weak transcription	Primary B cells from cord blood	blood
9	chr2:178197600-178217200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr2:178197800-178214000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:178197800-178215400	Weak transcription	Dnd41	blood
12	chr2:178198000-178213000	Weak transcription	Ovary	ovary
13	chr2:178199000-178214400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:178199600-178213600	Weak transcription	Brain Angular Gyrus	brain
15	chr2:178200800-178213600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:178202200-178217400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:178203200-178216400	Weak transcription	HSMMtube	muscle
18	chr2:178203200-178217800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:178203400-178215000	Weak transcription	Adipose Nuclei	Adipose
20	chr2:178203400-178216000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:178203400-178216000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:178203400-178217000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:178203400-178244400	Weak transcription	HSMM	muscle
24	chr2:178203600-178213000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:178203800-178214000	Weak transcription	K562	blood
26	chr2:178203800-178221600	Weak transcription	A549	lung
27	chr2:178208800-178214200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:178210400-178212800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:178210400-178214600	Weak transcription	Fetal Brain Male	brain
30	chr2:178210600-178218000	Enhancers	HepG2	liver
31	chr2:178211000-178212800	Enhancers	Primary hematopoietic stem cells	blood
32	chr2:178211200-178212800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:178211200-178214400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:178211400-178212000	Enhancers	Fetal Heart	heart
35	chr2:178211400-178212200	Enhancers	Fetal Intestine Small	intestine
36	chr2:178211600-178213600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:178211800-178213200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:178211800-178214000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:178211800-178214200	Enhancers	Brain Hippocampus Middle	brain
40	chr2:178211800-178217400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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