Variant report

Variant	rs2108027
Chromosome Location	chr7:101245820-101245821
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101245451..101246297-chr7:101914933..101915725,2	MCF-7	breast:
2	chr7:101245522..101246394-chr7:101457419..101458061,2	K562	blood:
3	chr7:101242393..101247738-chr7:101456834..101460384,5	MCF-7	breast:
4	chr7:101245401..101246357-chr7:101879322..101880688,4	K562	blood:
5	chr7:101245468..101246352-chr7:101915597..101916163,4	K562	blood:
6	chr7:101245559..101246104-chr7:101916727..101917460,2	K562	blood:
7	chr7:101245631..101247804-chr7:101249820..101253085,4	MCF-7	breast:
8	chr7:101245091..101246357-chr7:101457101..101458459,9	MCF-7	breast:
9	chr7:101185812..101186322-chr7:101245513..101246339,2	K562	blood:
10	chr7:101244039..101255564-chr7:101454524..101463981,21	MCF-7	breast:
11	chr7:101245574..101246182-chr7:101331380..101332228,3	MCF-7	breast:
12	chr7:101239160..101242958-chr7:101243756..101248056,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12532732	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13226908	0.84[EUR][1000 genomes]
rs2079402	0.91[ASN][1000 genomes]
rs4727501	0.92[ASN][1000 genomes]
rs55914958	0.95[ASN][1000 genomes]
rs62466276	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67986566	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949105	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740198	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv888821	chr7:101091470-101311540	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv831078	chr7:101094945-101257486	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv888822	chr7:101105017-101330734	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv888824	chr7:101109073-101330734	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv888825	chr7:101168283-101330734	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1018544	chr7:101225639-101424889	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv539045	chr7:101225639-101424889	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv888826	chr7:101230768-101277334	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv482758	chr7:101231458-101395219	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101241400-101246200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:101242200-101249600	Weak transcription	Spleen	Spleen
3	chr7:101242400-101246200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:101242400-101248400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:101242600-101248600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:101242600-101248800	Weak transcription	Fetal Lung	lung
7	chr7:101242800-101246000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:101242800-101246000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:101242800-101251600	Weak transcription	Gastric	stomach
10	chr7:101243000-101246000	Weak transcription	HSMMtube	muscle
11	chr7:101243200-101246000	Weak transcription	NHDF-Ad	bronchial
12	chr7:101245000-101246400	Enhancers	Fetal Intestine Large	intestine
13	chr7:101245200-101246600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
14	chr7:101245200-101246800	Enhancers	Fetal Muscle Leg	muscle
15	chr7:101245400-101246000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:101245400-101246400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr7:101245400-101246400	Enhancers	HSMM	muscle
18	chr7:101245400-101246600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:101245400-101246600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:101245400-101246600	Bivalent Enhancer	Fetal Stomach	stomach
21	chr7:101245400-101246600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr7:101245600-101246000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:101245600-101246000	Enhancers	Brain Hippocampus Middle	brain
24	chr7:101245600-101246200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr7:101245600-101246200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
26	chr7:101245600-101246400	Enhancers	Fetal Intestine Small	intestine
27	chr7:101245600-101246600	Enhancers	Fetal Muscle Trunk	muscle
28	chr7:101245600-101246600	Enhancers	A549	lung
29	chr7:101245600-101246800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:101245600-101250600	Enhancers	Placenta	Placenta
31	chr7:101245800-101246000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr7:101245800-101246000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:101245800-101246000	Flanking Active TSS	Colonic Mucosa	Colon
34	chr7:101245800-101246200	Enhancers	Primary B cells from peripheral blood	blood
35	chr7:101245800-101246200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr7:101245800-101246200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:101245800-101246200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr7:101245800-101246200	Enhancers	Dnd41	blood
39	chr7:101245800-101246200	Flanking Active TSS	Hela-S3	cervix
40	chr7:101245800-101246200	Flanking Active TSS	HepG2	liver
41	chr7:101245800-101246400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:101245800-101246400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
43	chr7:101245800-101246400	Enhancers	Pancreas	Pancrea
44	chr7:101245800-101246400	Enhancers	Stomach Mucosa	stomach
45	chr7:101245800-101246600	Enhancers	HMEC	breast

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