Variant report

Variant	rs2298911
Chromosome Location	chr1:93220782-93220783
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93218168..93220841-chr1:93296877..93299515,3	K562	blood:
2	chr1:93217706..93221127-chr1:93297522..93299381,3	K562	blood:
3	chr1:93219197..93221453-chr1:93249271..93251757,2	K562	blood:
4	chr1:93220670..93222907-chr1:93296640..93299176,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122406	Chromatin interaction
ENSG00000067208	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10782943	0.83[AMR][1000 genomes]
rs10874739	0.82[ASN][1000 genomes]
rs10874740	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2145825	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4847335	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6604020	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6674324	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997898	chr1:93167128-93228156	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv871263	chr1:93196273-93248228	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93190000-93221800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:93191200-93221600	Weak transcription	Fetal Intestine Large	intestine
3	chr1:93192400-93221200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:93192400-93226400	Weak transcription	Esophagus	oesophagus
5	chr1:93193000-93223800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:93200200-93224000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:93209200-93222400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:93209200-93227800	Weak transcription	Primary B cells from cord blood	blood
9	chr1:93210000-93221200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:93211800-93249200	Weak transcription	Fetal Stomach	stomach
11	chr1:93213800-93221200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:93213800-93221200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:93213800-93221200	Weak transcription	Gastric	stomach
14	chr1:93214000-93221200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:93214000-93221200	Weak transcription	Placenta	Placenta
16	chr1:93214000-93224200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:93214000-93224600	Weak transcription	Psoas Muscle	Psoas
18	chr1:93214000-93231200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr1:93214000-93240000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:93214000-93248400	Weak transcription	Lung	lung
21	chr1:93214200-93221200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:93218200-93221800	Enhancers	NH-A	brain
23	chr1:93218600-93221000	Weak transcription	Brain Angular Gyrus	brain
24	chr1:93218600-93223600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:93218800-93220800	Weak transcription	Brain Anterior Caudate	brain
26	chr1:93218800-93220800	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:93218800-93221200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:93219000-93221000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:93219400-93224800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:93219600-93223000	Weak transcription	HSMM	muscle
31	chr1:93219600-93224600	Weak transcription	Osteobl	bone
32	chr1:93219800-93221200	Weak transcription	A549	lung
33	chr1:93219800-93225600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:93220000-93221000	ZNF genes & repeats	Fetal Muscle Leg	muscle
35	chr1:93220000-93221200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:93220000-93221200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:93220000-93221400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:93220000-93221400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:93220000-93221600	Weak transcription	Stomach Mucosa	stomach
40	chr1:93220000-93223800	Weak transcription	HMEC	breast
41	chr1:93220200-93227600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:93220400-93220800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:93220400-93221000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:93220400-93221400	Weak transcription	K562	blood
45	chr1:93220400-93221400	Weak transcription	NHEK	skin
46	chr1:93220400-93221800	Strong transcription	Fetal Intestine Small	intestine
47	chr1:93220400-93222000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:93220400-93224200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:93220400-93225000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:93220400-93225800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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