Variant report

Variant	rs10267748
Chromosome Location	chr7:101242575-101242576
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101241906..101244609-chr7:101517882..101520597,2	MCF-7	breast:
2	chr7:101230659..101232950-chr7:101241327..101243345,2	K562	blood:
3	chr7:101237649..101239948-chr7:101241103..101242929,2	MCF-7	breast:
4	chr7:101242393..101247738-chr7:101456834..101460384,5	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: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10230317	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253090	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10260032	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10263222	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275446	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275576	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135656	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135662	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1981582	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2158724	0.93[ASN][1000 genomes]
rs2410855	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28526614	1.00[ASN][1000 genomes]
rs4727499	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945206	1.00[ASN][1000 genomes]
rs6945374	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952330	0.93[ASN][1000 genomes]
rs6965503	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6979523	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6979532	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793853	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794011	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803577	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101241200-101242600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:101241200-101242600	Enhancers	Fetal Intestine Small	intestine
3	chr7:101241200-101242600	Enhancers	Fetal Lung	lung
4	chr7:101241200-101242600	Enhancers	Pancreas	Pancrea
5	chr7:101241200-101242800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:101241200-101242800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr7:101241200-101242800	Enhancers	Stomach Mucosa	stomach
8	chr7:101241200-101243200	Enhancers	Fetal Muscle Leg	muscle
9	chr7:101241400-101242600	Enhancers	Colonic Mucosa	Colon
10	chr7:101241400-101242600	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr7:101241400-101242800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:101241400-101242800	Enhancers	Fetal Intestine Large	intestine
13	chr7:101241400-101242800	Enhancers	Gastric	stomach
14	chr7:101241400-101243200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:101241400-101246200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:101241600-101242600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:101241600-101242800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr7:101241600-101243000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:101241600-101243000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr7:101241600-101243000	Enhancers	HSMMtube	muscle
21	chr7:101241600-101243200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:101241600-101245200	Enhancers	Placenta	Placenta
23	chr7:101241800-101242800	Enhancers	Fetal Stomach	stomach
24	chr7:101241800-101243200	Enhancers	NHDF-Ad	bronchial
25	chr7:101242000-101242600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:101242000-101242600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:101242200-101242600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:101242200-101242600	Enhancers	Adipose Nuclei	Adipose
29	chr7:101242200-101242600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr7:101242200-101243000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:101242200-101243000	Flanking Bivalent TSS/Enh	HepG2	liver
32	chr7:101242200-101245600	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:101242200-101249600	Weak transcription	Spleen	Spleen
34	chr7:101242400-101242600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:101242400-101242800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:101242400-101242800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:101242400-101242800	Bivalent Enhancer	NHLF	lung
38	chr7:101242400-101245400	Weak transcription	HSMM	muscle
39	chr7:101242400-101245800	Weak transcription	HMEC	breast
40	chr7:101242400-101246200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:101242400-101248400	Weak transcription	Rectal Mucosa Donor 31	rectum

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