Variant report

Variant	rs9496483
Chromosome Location	chr6:143257582-143257583
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:143253291..143259371-chr6:143264304..143268146,10	MCF-7	breast:
2	chr6:143255723..143258241-chr6:143260281..143262447,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000010818	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12212322	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62428833	0.93[EUR][1000 genomes]
rs6940880	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7758819	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7764208	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9496482	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv538459	chr6:143165802-143360098	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143248600-143260600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:143248600-143265000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:143248800-143260600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:143249000-143263800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:143249200-143261400	Weak transcription	NH-A	brain
6	chr6:143249400-143261600	Weak transcription	HSMMtube	muscle
7	chr6:143249400-143264600	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:143249600-143263800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:143250200-143261600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:143250400-143261600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr6:143251800-143259400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:143251800-143259400	Weak transcription	Brain Angular Gyrus	brain
13	chr6:143251800-143259800	Weak transcription	HSMM	muscle
14	chr6:143251800-143259800	Weak transcription	NHEK	skin
15	chr6:143251800-143261400	Weak transcription	HMEC	breast
16	chr6:143252000-143261600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:143252000-143261800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:143253600-143258200	Enhancers	Primary B cells from peripheral blood	blood
19	chr6:143254200-143258600	Weak transcription	Fetal Brain Male	brain
20	chr6:143254400-143261600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr6:143255000-143257600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr6:143255000-143257600	Flanking Active TSS	GM12878-XiMat	blood
23	chr6:143255400-143259600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr6:143255600-143259400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr6:143255600-143261800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:143255600-143263400	Weak transcription	Fetal Heart	heart
27	chr6:143255600-143263400	Weak transcription	Fetal Intestine Small	intestine
28	chr6:143255600-143263600	Weak transcription	Colon Smooth Muscle	Colon
29	chr6:143255800-143257600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:143255800-143263800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:143256000-143259600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:143256000-143259800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:143256000-143263600	Weak transcription	Stomach Mucosa	stomach
34	chr6:143256200-143259000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr6:143256200-143259400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr6:143256200-143259600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr6:143256200-143259800	Weak transcription	Brain Anterior Caudate	brain
38	chr6:143256200-143259800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr6:143256200-143259800	Weak transcription	NHDF-Ad	bronchial
40	chr6:143256200-143260400	Weak transcription	Osteobl	bone
41	chr6:143256200-143261600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:143256200-143261600	Weak transcription	Pancreas	Pancrea
43	chr6:143256200-143261800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:143256200-143263000	Weak transcription	HepG2	liver
45	chr6:143256200-143265000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr6:143256200-143265000	Weak transcription	Aorta	Aorta
47	chr6:143256400-143259000	Weak transcription	Brain Hippocampus Middle	brain
48	chr6:143256400-143259600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:143256400-143259800	Weak transcription	Liver	Liver
50	chr6:143256400-143261400	Weak transcription	Thymus	Thymus

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