Variant report

Variant	rs28645143
Chromosome Location	chr7:26720936-26720937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:26720859..26722433-chr7:27183062..27183923,9	MCF-7	breast:
2	chr7:26714359..26717101-chr7:26719941..26722136,2	K562	blood:

Variant related genes	Relation type
ENSG00000106004	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10085562	0.87[EUR][1000 genomes]
rs10226612	0.92[EUR][1000 genomes]
rs10227575	0.83[EUR][1000 genomes]
rs10231080	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10238067	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10246300	0.87[EUR][1000 genomes]
rs10246483	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10246578	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10247117	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10248232	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10250097	0.83[EUR][1000 genomes]
rs10250304	0.87[EUR][1000 genomes]
rs10250321	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10251817	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10252268	0.81[EUR][1000 genomes]
rs10254460	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10254467	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10257057	0.90[EUR][1000 genomes]
rs10261927	0.90[EUR][1000 genomes]
rs10262212	0.90[EUR][1000 genomes]
rs10262527	0.87[EUR][1000 genomes]
rs10262797	0.80[EUR][1000 genomes]
rs10265607	0.87[EUR][1000 genomes]
rs10271393	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10277060	0.83[EUR][1000 genomes]
rs10280403	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1030647	0.91[EUR][1000 genomes]
rs10486473	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10486474	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10486480	0.80[EUR][1000 genomes]
rs10486481	0.81[EUR][1000 genomes]
rs12155150	0.90[EUR][1000 genomes]
rs12333409	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12333690	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12334154	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1548482	0.96[EUR][1000 genomes]
rs17154428	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17154538	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17310268	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17310851	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17310907	0.96[EUR][1000 genomes]
rs17313134	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17370293	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17371905	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2195902	0.91[EUR][1000 genomes]
rs28414527	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28465643	0.83[EUR][1000 genomes]
rs28781274	0.83[EUR][1000 genomes]
rs34616067	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3735547	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4141345	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4141346	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61636979	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67719086	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6950668	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6954621	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6961653	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6961904	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73073794	0.96[EUR][1000 genomes]
rs73079514	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7779269	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7781784	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7782851	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783807	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7784380	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7786308	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786456	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806174	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9648328	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9648329	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9648332	0.92[EUR][1000 genomes]
rs9648333	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	nsv830929	chr7:26587888-26749735	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1020378	chr7:26679880-26733872	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv5672	chr7:26711462-26757891	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26705000-26759600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:26707200-26721800	Weak transcription	Fetal Lung	lung
3	chr7:26708800-26725600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr7:26715000-26731200	Weak transcription	Lung	lung
5	chr7:26715600-26724600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:26715600-26725200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:26715600-26725200	Weak transcription	NHEK	skin
8	chr7:26715600-26725400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:26715600-26726000	Weak transcription	Osteobl	bone
10	chr7:26715600-26726200	Weak transcription	HMEC	breast
11	chr7:26716400-26726000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:26716400-26728200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr7:26716800-26723000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr7:26716800-26729200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:26718200-26722800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr7:26719000-26721200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:26719000-26721800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:26719200-26721000	Enhancers	Primary hematopoietic stem cells	blood
19	chr7:26719200-26724200	Weak transcription	Primary B cells from cord blood	blood
20	chr7:26719800-26721000	Enhancers	Fetal Intestine Large	intestine
21	chr7:26720200-26721000	Enhancers	Fetal Intestine Small	intestine
22	chr7:26720200-26721200	Enhancers	HepG2	liver
23	chr7:26720400-26721000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr7:26720600-26721400	Weak transcription	Fetal Kidney	kidney
25	chr7:26720600-26721600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr7:26720800-26728600	Weak transcription	Spleen	Spleen

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