Variant report

Variant	rs4727514
Chromosome Location	chr7:101617174-101617175
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101616036..101617995-chr7:101623779..101626539,2	MCF-7	breast:
2	chr7:101585316..101588407-chr7:101614430..101618418,4	MCF-7	breast:
3	chr7:101456365..101464966-chr7:101609986..101627610,39	MCF-7	breast:
4	chr7:101616193..101620421-chr7:101625647..101631766,10	MCF-7	breast:
5	chr7:101527665..101530418-chr7:101615760..101617815,3	MCF-7	breast:
6	chr7:101526412..101529161-chr7:101615489..101617394,2	MCF-7	breast:
7	chr7:101582741..101590045-chr7:101612112..101621417,29	MCF-7	breast:
8	chr7:101616748..101619051-chr7:101648176..101650309,2	MCF-7	breast:
9	chr7:101610580..101623329-chr7:101643563..101654055,32	MCF-7	breast:
10	chr7:101497931..101500798-chr7:101614587..101617565,2	MCF-7	breast:
11	chr7:101457373..101459567-chr7:101616573..101618153,2	K562	blood:
12	chr7:101616114..101620590-chr7:101622530..101625507,8	MCF-7	breast:
13	chr7:101616472..101618066-chr7:101724555..101726542,2	MCF-7	breast:
14	chr7:101612802..101614930-chr7:101616461..101618172,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2970478	0.83[ASN][1000 genomes]
rs386137	0.92[ASN][1000 genomes]
rs404284	0.90[ASN][1000 genomes]
rs416466	0.85[ASN][1000 genomes]
rs425768	0.85[ASN][1000 genomes]
rs434564	0.85[ASN][1000 genomes]
rs440923	0.87[ASN][1000 genomes]
rs441601	0.82[ASN][1000 genomes]
rs441780	0.82[ASN][1000 genomes]
rs4729764	0.81[ASN][1000 genomes]
rs4729766	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6954798	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs740302	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs876826	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv482846	chr7:101539981-101707666	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv888827	chr7:101562674-101650302	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv482521	chr7:101604002-101718950	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS 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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101578200-101671200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:101586400-101620600	Weak transcription	Adipose Nuclei	Adipose
3	chr7:101591400-101628200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:101592400-101629200	Weak transcription	Aorta	Aorta
5	chr7:101597000-101642000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:101597200-101621200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:101597400-101624800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:101597400-101625400	Weak transcription	NHLF	lung
9	chr7:101597600-101624600	Weak transcription	Hela-S3	cervix
10	chr7:101598200-101631600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:101599200-101626200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:101601600-101626600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr7:101601800-101624400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr7:101602600-101621600	Weak transcription	Placenta	Placenta
15	chr7:101602800-101617800	Weak transcription	Fetal Kidney	kidney
16	chr7:101604800-101629600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:101606600-101617800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:101606800-101628400	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:101608200-101626400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:101608600-101618000	Weak transcription	A549	lung
21	chr7:101608600-101621600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr7:101608600-101621600	Weak transcription	Right Ventricle	heart
23	chr7:101608600-101625000	Weak transcription	Primary B cells from cord blood	blood
24	chr7:101608800-101621600	Weak transcription	Esophagus	oesophagus
25	chr7:101608800-101622000	Weak transcription	Pancreas	Pancrea
26	chr7:101608800-101627800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr7:101610000-101626600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:101611400-101621200	Weak transcription	Fetal Intestine Large	intestine
29	chr7:101614000-101617800	Weak transcription	Brain Germinal Matrix	brain
30	chr7:101614200-101618400	Weak transcription	HepG2	liver
31	chr7:101614200-101619200	Weak transcription	Fetal Brain Male	brain
32	chr7:101614200-101628600	Weak transcription	Colonic Mucosa	Colon
33	chr7:101614400-101646400	Weak transcription	Fetal Brain Female	brain
34	chr7:101615000-101618600	Weak transcription	K562	blood
35	chr7:101615800-101619800	Enhancers	Fetal Heart	heart
36	chr7:101615800-101620000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr7:101616000-101626000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:101616000-101626200	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:101616000-101626600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr7:101616000-101627800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:101616200-101621600	Weak transcription	Lung	lung
42	chr7:101616200-101622000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:101616200-101624600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr7:101616400-101620000	Enhancers	GM12878-XiMat	blood
45	chr7:101616400-101621600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:101616400-101633000	Weak transcription	Gastric	stomach
47	chr7:101616600-101621200	Weak transcription	Spleen	Spleen
48	chr7:101616600-101626400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:101616600-101627800	Weak transcription	Primary T cells from cord blood	blood
50	chr7:101616600-101628600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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