Variant report

Variant	rs4727500
Chromosome Location	chr7:101241713-101241714
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101230659..101232950-chr7:101241327..101243345,2	K562	blood:
2	chr7:101237649..101239948-chr7:101241103..101242929,2	MCF-7	breast:
3	chr7:101240848..101242506-chr7:101458651..101461014,2	MCF-7	breast:
4	chr7:101240345..101242548-chr7:101441803..101443372,2	MCF-7	breast:
5	chr7:101239160..101242958-chr7:101243756..101248056,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11489598	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12234788	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535019	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1859621	0.81[EUR][1000 genomes];0.93[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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101241200-101242200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
2	chr7:101241200-101242200	Flanking Active TSS	HepG2	liver
3	chr7:101241200-101242400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr7:101241200-101242400	Enhancers	HMEC	breast
5	chr7:101241200-101242600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:101241200-101242600	Enhancers	Fetal Intestine Small	intestine
7	chr7:101241200-101242600	Enhancers	Fetal Lung	lung
8	chr7:101241200-101242600	Enhancers	Pancreas	Pancrea
9	chr7:101241200-101242800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:101241200-101242800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr7:101241200-101242800	Enhancers	Stomach Mucosa	stomach
12	chr7:101241200-101243200	Enhancers	Fetal Muscle Leg	muscle
13	chr7:101241400-101241800	Enhancers	Duodenum Mucosa	Duodenum
14	chr7:101241400-101242600	Enhancers	Colonic Mucosa	Colon
15	chr7:101241400-101242600	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr7:101241400-101242800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr7:101241400-101242800	Enhancers	Fetal Intestine Large	intestine
18	chr7:101241400-101242800	Enhancers	Gastric	stomach
19	chr7:101241400-101243200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:101241400-101246200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:101241600-101242200	Enhancers	Brain Cingulate Gyrus	brain
22	chr7:101241600-101242200	Enhancers	Brain Hippocampus Middle	brain
23	chr7:101241600-101242200	Enhancers	Spleen	Spleen
24	chr7:101241600-101242400	Enhancers	Lung	lung
25	chr7:101241600-101242600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:101241600-101242800	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr7:101241600-101243000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:101241600-101243000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr7:101241600-101243000	Enhancers	HSMMtube	muscle
30	chr7:101241600-101243200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:101241600-101245200	Enhancers	Placenta	Placenta

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