Variant report

Variant	rs12549134
Chromosome Location	chr8:99241738-99241739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99239634..99241965-chr8:99304467..99306993,2	MCF-7	breast:
2	chr8:99240258..99242155-chr8:99245029..99246682,2	MCF-7	breast:
3	chr8:99241307..99248169-chr8:99249290..99255267,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104361	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12547555	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1901363	0.81[ASN][1000 genomes]
rs2122929	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3735884	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55772672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55975205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56215918	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62522239	0.80[EUR][1000 genomes]
rs62522241	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62522242	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62522245	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62522247	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62522248	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62522249	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62524189	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6985720	0.91[EUR][1000 genomes]
rs7005911	0.91[EUR][1000 genomes]
rs7016814	0.93[EUR][1000 genomes]
rs72664827	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831405	chr8:99095239-99260934	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv6326	chr8:99221674-99263687	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99191600-99243800	Weak transcription	Spleen	Spleen
2	chr8:99203800-99252600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr8:99205200-99259600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:99211200-99243200	Weak transcription	Fetal Lung	lung
5	chr8:99216600-99245400	Weak transcription	Stomach Mucosa	stomach
6	chr8:99218400-99259000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr8:99226000-99248400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:99226200-99246400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:99226200-99248400	Weak transcription	HSMMtube	muscle
10	chr8:99226200-99267000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:99226400-99245800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:99226400-99246200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:99226400-99246200	Weak transcription	Osteobl	bone
14	chr8:99229400-99267000	Weak transcription	Left Ventricle	heart
15	chr8:99233000-99245800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:99235400-99246000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:99235400-99268400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:99236000-99248400	Weak transcription	HMEC	breast
19	chr8:99237800-99248400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:99238800-99242800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:99239200-99244000	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr8:99239400-99244600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:99239400-99268600	Weak transcription	Aorta	Aorta
24	chr8:99239800-99252600	Weak transcription	Esophagus	oesophagus
25	chr8:99240200-99242400	Weak transcription	Lung	lung
26	chr8:99240400-99246800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr8:99240400-99248200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:99240400-99259400	Weak transcription	Fetal Intestine Large	intestine
29	chr8:99240400-99259400	Weak transcription	Pancreas	Pancrea
30	chr8:99240400-99264400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:99240400-99266200	Weak transcription	Fetal Stomach	stomach
32	chr8:99240600-99248200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr8:99240600-99250800	Weak transcription	Adipose Nuclei	Adipose
34	chr8:99240600-99267000	Weak transcription	Gastric	stomach
35	chr8:99240600-99294200	Weak transcription	Ovary	ovary
36	chr8:99240800-99252400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:99240800-99259200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:99241000-99259200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr8:99241000-99259200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr8:99241000-99269400	Weak transcription	Fetal Intestine Small	intestine
41	chr8:99241200-99242000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:99241600-99242000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:99241600-99242200	Weak transcription	Monocytes-CD14+_RO01746	blood

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