Variant report

Variant	rs10248054
Chromosome Location	chr7:13155224-13155225
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12726572..12727399-chr7:13154701..13155615,3	MCF-7	breast:
2	chr7:13145074..13147493-chr7:13153724..13155360,2	MCF-7	breast:
3	chr7:12980961..12983258-chr7:13154370..13156023,2	MCF-7	breast:
4	chr7:13086829..13088462-chr7:13155188..13156937,2	K562	blood:
5	chr7:12726065..12729797-chr7:13154020..13158072,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122644	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10233263	1.00[YRI][hapmap]
rs10239450	1.00[YRI][hapmap]
rs10276577	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1019173	chr7:13063854-13585360	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv538737	chr7:13063854-13585360	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv887643	chr7:13086613-13211263	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1034496	chr7:13102902-13275542	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1030795	chr7:13111069-13242350	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1019238	chr7:13129616-13248483	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv2764039	chr7:13130069-13224373	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1020790	chr7:13130069-13365778	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv887644	chr7:13130646-13220153	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv887645	chr7:13132400-13220153	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv887646	chr7:13137142-13237390	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv1015724	chr7:13143412-13242350	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv887647	chr7:13146222-13262586	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13154400-13155400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr7:13154400-13155400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr7:13154400-13155400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:13154400-13155400	Enhancers	Placenta	Placenta
5	chr7:13154400-13155400	Enhancers	HMEC	breast
6	chr7:13154400-13155400	Enhancers	K562	blood
7	chr7:13154400-13155400	Enhancers	NHEK	skin
8	chr7:13154400-13155800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:13154400-13155800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:13154400-13156000	Enhancers	HSMMtube	muscle
11	chr7:13154400-13156400	Enhancers	A549	lung
12	chr7:13154400-13157800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:13154600-13155400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:13154600-13155400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr7:13154600-13155600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:13154800-13155400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:13154800-13155400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:13154800-13155400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:13154800-13155400	Enhancers	Fetal Lung	lung
20	chr7:13154800-13155400	Enhancers	Hela-S3	cervix
21	chr7:13154800-13155600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:13154800-13155800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:13154800-13155800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr7:13154800-13156000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr7:13154800-13156200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:13155000-13155400	Enhancers	H9 Cell Line	embryonic stem cell
27	chr7:13155000-13155600	Enhancers	HSMM	muscle
28	chr7:13155000-13157000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr7:13155200-13155400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:13155200-13156400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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