Variant report

Variant	rs12197590
Chromosome Location	chr6:36596784-36596785
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36581224..36597272-chr6:36642199..36659412,120	MCF-7	breast:
2	chr6:36595347..36597183-chr6:36609733..36612539,2	MCF-7	breast:
3	chr6:36581748..36603537-chr6:36641861..36652365,77	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124762	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10214849	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10223366	0.83[EUR][1000 genomes]
rs10947613	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1406945	0.83[EUR][1000 genomes]
rs4713987	0.84[EUR][1000 genomes]
rs60627328	0.84[EUR][1000 genomes]
rs671516	0.80[EUR][1000 genomes]
rs6937430	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73410251	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7755461	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7759546	0.81[EUR][1000 genomes]
rs9366911	0.82[EUR][1000 genomes]
rs9368942	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
2	nsv1031191	chr6:36588974-36718015	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv538201	chr6:36588974-36718015	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36580200-36599200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:36581400-36604400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr6:36582800-36610800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:36587000-36597000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:36591600-36597000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:36592400-36597000	Weak transcription	Brain Hippocampus Middle	brain
7	chr6:36593000-36596800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr6:36593400-36599200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:36593400-36601600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:36593600-36596800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:36593600-36599000	Weak transcription	A549	lung
12	chr6:36593600-36601800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr6:36593800-36601400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:36594600-36596800	Weak transcription	HUVEC	blood vessel
15	chr6:36594600-36597400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:36594600-36598200	Enhancers	Spleen	Spleen
17	chr6:36595000-36597200	Enhancers	Colon Smooth Muscle	Colon
18	chr6:36595200-36597800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr6:36595200-36598400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr6:36595400-36597200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr6:36595400-36597600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:36595600-36597000	Weak transcription	Brain Substantia Nigra	brain
23	chr6:36595600-36598400	Enhancers	Primary B cells from peripheral blood	blood
24	chr6:36595600-36601800	Weak transcription	Lung	lung
25	chr6:36595800-36596800	Weak transcription	Fetal Intestine Large	intestine
26	chr6:36595800-36596800	Weak transcription	Osteobl	bone
27	chr6:36595800-36597000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr6:36595800-36597000	Weak transcription	Fetal Kidney	kidney
29	chr6:36595800-36597000	Weak transcription	Placenta	Placenta
30	chr6:36595800-36597000	Weak transcription	Ovary	ovary
31	chr6:36595800-36597000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr6:36595800-36597000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr6:36595800-36598000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr6:36595800-36598800	Weak transcription	Fetal Heart	heart
35	chr6:36595800-36599000	Weak transcription	HSMMtube	muscle
36	chr6:36595800-36599200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:36595800-36601000	Weak transcription	Stomach Mucosa	stomach
38	chr6:36595800-36601200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr6:36595800-36601200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr6:36595800-36601800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr6:36595800-36601800	Weak transcription	Fetal Thymus	thymus
42	chr6:36595800-36601800	Weak transcription	Right Ventricle	heart
43	chr6:36595800-36602000	Weak transcription	Gastric	stomach
44	chr6:36596000-36597000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:36596000-36597000	Weak transcription	Adipose Nuclei	Adipose
46	chr6:36596000-36597000	Weak transcription	Fetal Muscle Leg	muscle
47	chr6:36596000-36597000	Weak transcription	Right Atrium	heart
48	chr6:36596000-36597000	Weak transcription	Small Intestine	intestine
49	chr6:36596000-36597400	Weak transcription	Liver	Liver
50	chr6:36596000-36598600	Enhancers	GM12878-XiMat	blood

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