Variant report

Variant	rs1111193
Chromosome Location	chr2:210941294-210941295
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:210939693..210942235-chr2:211033834..211036159,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263530	Chromatin interaction
ENSG00000144445	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1990513	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs2080158	1.00[YRI][hapmap]
rs2192323	1.00[YRI][hapmap]
rs2243769	1.00[YRI][hapmap]
rs2539868	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2539872	1.00[AMR][1000 genomes]
rs263671	0.83[YRI][hapmap]
rs263677	1.00[YRI][hapmap]
rs2887881	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs57875655	1.00[AMR][1000 genomes]
rs58282165	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58931716	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063910	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063916	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063929	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063940	1.00[AMR][1000 genomes]
rs73063945	0.85[AFR][1000 genomes];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	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1004426	chr2:210709999-211001680	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv1802749	chr2:210905194-211255611	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210881800-210953000	Weak transcription	Gastric	stomach
2	chr2:210894000-210969400	Weak transcription	Fetal Kidney	kidney
3	chr2:210911600-210980800	Weak transcription	Pancreas	Pancrea
4	chr2:210913000-210964400	Weak transcription	Primary B cells from cord blood	blood
5	chr2:210920200-210942800	Weak transcription	Brain Angular Gyrus	brain
6	chr2:210920200-210963800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:210920200-210968200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr2:210921000-210950800	Weak transcription	Liver	Liver
9	chr2:210921000-210977200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:210921000-210980800	Weak transcription	Esophagus	oesophagus
11	chr2:210921200-210942000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:210921200-210991200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:210922000-210977600	Weak transcription	Fetal Lung	lung
14	chr2:210924200-210962400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:210924200-210962400	Weak transcription	Fetal Intestine Large	intestine
16	chr2:210924200-210964800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:210924400-210942800	Weak transcription	Fetal Brain Male	brain
18	chr2:210928200-210977400	Weak transcription	Aorta	Aorta
19	chr2:210928400-210945000	Weak transcription	Lung	lung
20	chr2:210928400-210971200	Weak transcription	Fetal Stomach	stomach
21	chr2:210928400-210973000	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:210928400-210977200	Weak transcription	Fetal Intestine Small	intestine
23	chr2:210928400-210977400	Weak transcription	Primary T cells from cord blood	blood
24	chr2:210928400-210980600	Weak transcription	Right Ventricle	heart
25	chr2:210929000-210971400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:210929600-210977400	Weak transcription	Thymus	Thymus
27	chr2:210929800-210953000	Weak transcription	Left Ventricle	heart
28	chr2:210932000-210977200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:210932400-210947200	Weak transcription	Ovary	ovary
30	chr2:210938000-210962000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:210938200-210965800	Weak transcription	Fetal Thymus	thymus
32	chr2:210939400-210952400	Weak transcription	Psoas Muscle	Psoas
33	chr2:210940600-210977600	Weak transcription	Adipose Nuclei	Adipose

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