Variant report

Variant	rs7543851
Chromosome Location	chr1:153493336-153493337
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:153491196..153497339-chr1:153538209..153542553,6	MCF-7	breast:
2	chr1:153492067..153494690-chr1:153506772..153509509,2	MCF-7	breast:
3	chr1:153488431..153490031-chr1:153491470..153493737,3	MCF-7	breast:
4	chr1:153492157..153493956-chr1:153538151..153541270,3	MCF-7	breast:
5	chr1:153490604..153493387-chr1:153620859..153622534,2	MCF-7	breast:
6	chr1:153490524..153493456-chr1:153634525..153637062,2	MCF-7	breast:
7	chr1:153492181..153495094-chr1:153498850..153501392,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143621	Chromatin interaction
ENSG00000197956	Chromatin interaction
ENSG00000196754	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs11486185	1.00[CHB][hapmap]
rs11488667	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11973	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16835357	1.00[EUR][1000 genomes]
rs16835362	1.00[EUR][1000 genomes]
rs16835371	1.00[EUR][1000 genomes]
rs16835373	1.00[EUR][1000 genomes]
rs16835375	1.00[EUR][1000 genomes]
rs16835379	1.00[EUR][1000 genomes]
rs16835389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16835409	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16835413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16835417	1.00[EUR][1000 genomes]
rs2104500	1.00[EUR][1000 genomes]
rs2230870	1.00[EUR][1000 genomes]
rs28373144	1.00[EUR][1000 genomes]
rs28407716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28442251	1.00[EUR][1000 genomes]
rs28451322	1.00[EUR][1000 genomes]
rs28456342	1.00[EUR][1000 genomes]
rs28485860	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28510499	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28578863	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28587171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28605603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28634320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28645589	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28648662	1.00[EUR][1000 genomes]
rs28690872	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28694652	1.00[EUR][1000 genomes]
rs28709866	1.00[EUR][1000 genomes]
rs28784102	1.00[EUR][1000 genomes]
rs3014827	1.00[EUR][1000 genomes]
rs3856025	1.00[EUR][1000 genomes]
rs56140059	1.00[EUR][1000 genomes]
rs56255753	1.00[EUR][1000 genomes]
rs56401460	1.00[EUR][1000 genomes]
rs58529054	1.00[EUR][1000 genomes]
rs59209384	1.00[EUR][1000 genomes]
rs59617976	1.00[EUR][1000 genomes]
rs60219287	1.00[EUR][1000 genomes]
rs60460123	1.00[EUR][1000 genomes]
rs61038462	1.00[EUR][1000 genomes]
rs61131911	1.00[EUR][1000 genomes]
rs61148582	1.00[EUR][1000 genomes]
rs73009954	1.00[EUR][1000 genomes]
rs73011738	1.00[EUR][1000 genomes]
rs73020460	1.00[EUR][1000 genomes]
rs73020461	1.00[EUR][1000 genomes]
rs73020464	1.00[EUR][1000 genomes]
rs73020467	1.00[EUR][1000 genomes]
rs73020468	1.00[EUR][1000 genomes]
rs73020471	1.00[EUR][1000 genomes]
rs73020473	1.00[EUR][1000 genomes]
rs73020474	1.00[EUR][1000 genomes]
rs73020478	1.00[EUR][1000 genomes]
rs73020479	1.00[EUR][1000 genomes]
rs73020496	1.00[EUR][1000 genomes]
rs73020497	1.00[EUR][1000 genomes]
rs73024502	1.00[EUR][1000 genomes]
rs73026308	1.00[EUR][1000 genomes]
rs730347	1.00[EUR][1000 genomes]
rs74115477	1.00[EUR][1000 genomes]
rs74115478	1.00[EUR][1000 genomes]
rs74115489	1.00[EUR][1000 genomes]
rs746425	1.00[EUR][1000 genomes]
rs7518794	1.00[EUR][1000 genomes]
rs7528738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases
5	nsv1007306	chr1:153413827-153541798	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153481200-153503600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:153483800-153497800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:153488600-153498200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:153488800-153497800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:153489000-153497800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:153489000-153497800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:153489000-153498000	Weak transcription	Esophagus	oesophagus
8	chr1:153489000-153498000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:153489000-153506000	Weak transcription	Gastric	stomach
10	chr1:153489400-153493400	Weak transcription	NHEK	skin
11	chr1:153489400-153498200	Weak transcription	Hela-S3	cervix
12	chr1:153491400-153493400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:153491400-153495200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:153491800-153498400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:153492000-153494200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:153492000-153494200	Enhancers	Fetal Intestine Large	intestine
17	chr1:153492000-153499200	Weak transcription	Fetal Thymus	thymus
18	chr1:153492200-153495000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:153492400-153495000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr1:153492400-153498400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr1:153492800-153493600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:153492800-153493600	Enhancers	Colonic Mucosa	Colon
23	chr1:153492800-153493600	Enhancers	K562	blood
24	chr1:153492800-153493800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
25	chr1:153492800-153493800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:153492800-153493800	Enhancers	Placenta	Placenta
27	chr1:153492800-153494000	Enhancers	Fetal Intestine Small	intestine
28	chr1:153492800-153494000	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr1:153492800-153494000	Enhancers	Stomach Mucosa	stomach
30	chr1:153492800-153494000	Enhancers	HMEC	breast
31	chr1:153493000-153493800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
32	chr1:153493000-153493800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
33	chr1:153493000-153494000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:153493000-153499400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:153493200-153493400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:153493200-153493400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr1:153493200-153493400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
38	chr1:153493200-153493400	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr1:153493200-153493400	Enhancers	Small Intestine	intestine
40	chr1:153493200-153493600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:153493200-153493600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:153493200-153493600	Enhancers	H9 Cell Line	embryonic stem cell
43	chr1:153493200-153493600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr1:153493200-153493600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr1:153493200-153493600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr1:153493200-153493600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:153493200-153493600	Enhancers	Pancreas	Pancrea
48	chr1:153493200-153493600	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr1:153493200-153493800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr1:153493200-153493800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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