Variant report

Variant	rs7982750
Chromosome Location	chr13:76197458-76197459
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	chr13:76194856..76197534-chr13:76208958..76210482,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261105	Chromatin interaction
ENSG00000136153	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10507831	0.83[AMR][1000 genomes]
rs11840829	0.83[AMR][1000 genomes]
rs11841846	0.83[AMR][1000 genomes]
rs11842057	0.83[AMR][1000 genomes]
rs17064713	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs36121666	1.00[AMR][1000 genomes]
rs56383676	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56864940	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59248213	0.83[AMR][1000 genomes]
rs60083157	0.83[AMR][1000 genomes]
rs61472085	0.83[AMR][1000 genomes]
rs74094443	0.83[AMR][1000 genomes]
rs74094444	0.83[AMR][1000 genomes]
rs74094447	0.83[AMR][1000 genomes]
rs74094448	0.83[AMR][1000 genomes]
rs74094449	0.83[AMR][1000 genomes]
rs74094454	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74094477	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7986038	1.00[AMR][1000 genomes]
rs8000362	0.83[AMR][1000 genomes]
rs8002355	1.00[AMR][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	nsv900571	chr13:76123678-76207565	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv900577	chr13:76132484-76207565	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv819632	chr13:76197383-76197971	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76125000-76209600	Weak transcription	Right Ventricle	heart
2	chr13:76148200-76203000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:76148200-76209600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr13:76149800-76209600	Weak transcription	Lung	lung
5	chr13:76159000-76209600	Weak transcription	Brain Hippocampus Middle	brain
6	chr13:76159400-76201800	Weak transcription	Fetal Lung	lung
7	chr13:76164600-76209400	Weak transcription	Esophagus	oesophagus
8	chr13:76165200-76209200	Weak transcription	Fetal Muscle Leg	muscle
9	chr13:76166800-76202000	Weak transcription	Fetal Brain Female	brain
10	chr13:76170800-76209600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr13:76174600-76198200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr13:76174600-76201400	Weak transcription	Psoas Muscle	Psoas
13	chr13:76176800-76199400	Weak transcription	Placenta	Placenta
14	chr13:76177600-76209400	Weak transcription	Left Ventricle	heart
15	chr13:76177600-76209600	Weak transcription	Fetal Stomach	stomach
16	chr13:76180000-76209600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr13:76180600-76204000	Weak transcription	GM12878-XiMat	blood
18	chr13:76180800-76204600	Weak transcription	Dnd41	blood
19	chr13:76180800-76209200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr13:76180800-76209200	Weak transcription	Adipose Nuclei	Adipose
21	chr13:76180800-76209600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr13:76181000-76209400	Weak transcription	Fetal Thymus	thymus
23	chr13:76181000-76209600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr13:76181000-76209600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr13:76181200-76198200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr13:76181200-76209400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr13:76181200-76209600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr13:76181400-76199600	Weak transcription	Primary B cells from cord blood	blood
29	chr13:76181400-76199600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr13:76181600-76207400	Weak transcription	HMEC	breast
31	chr13:76182200-76198200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr13:76182800-76209400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr13:76187400-76198000	Weak transcription	Primary T cells from cord blood	blood
34	chr13:76189600-76209400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr13:76190600-76209600	Weak transcription	Brain Angular Gyrus	brain
36	chr13:76191000-76201200	Weak transcription	Brain Anterior Caudate	brain
37	chr13:76191600-76201400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr13:76192000-76209600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr13:76192200-76209400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr13:76192600-76209600	Weak transcription	Fetal Intestine Small	intestine
41	chr13:76193400-76209400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr13:76194600-76198200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr13:76195400-76198200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr13:76195800-76197800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr13:76196000-76198000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr13:76196000-76200000	Weak transcription	Aorta	Aorta
47	chr13:76196200-76198200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr13:76196200-76198200	Enhancers	Osteobl	bone
49	chr13:76196200-76207600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr13:76196600-76198000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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