Variant report

Variant	rs12527144
Chromosome Location	chr6:45645787-45645788
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:45387873..45391350-chr6:45642901..45646664,5	MCF-7	breast:
2	chr6:45574169..45577727-chr6:45643786..45647502,3	MCF-7	breast:
3	chr6:45643355..45645914-chr6:45665891..45668541,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271857	Chromatin interaction
ENSG00000124813	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12526609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16873624	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16873689	0.84[AFR][1000 genomes];0.93[ASN][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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS 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	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45642200-45646400	Enhancers	Fetal Thymus	thymus
2	chr6:45643000-45646000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:45643200-45646000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:45643400-45647600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:45643400-45647800	Enhancers	Primary B cells from peripheral blood	blood
6	chr6:45644000-45646400	Enhancers	Primary hematopoietic stem cells	blood
7	chr6:45644000-45646400	Enhancers	NHDF-Ad	bronchial
8	chr6:45644200-45646200	Enhancers	HSMM	muscle
9	chr6:45644200-45646400	Enhancers	Fetal Brain Male	brain
10	chr6:45644200-45646400	Enhancers	Fetal Muscle Leg	muscle
11	chr6:45644800-45645800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:45644800-45645800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr6:45644800-45645800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr6:45644800-45645800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:45644800-45645800	Enhancers	Colon Smooth Muscle	Colon
16	chr6:45644800-45645800	Flanking Active TSS	Dnd41	blood
17	chr6:45644800-45645800	Flanking Active TSS	HSMMtube	muscle
18	chr6:45644800-45646000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:45644800-45646000	Enhancers	Adipose Nuclei	Adipose
20	chr6:45644800-45646200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:45644800-45646200	Enhancers	Brain Substantia Nigra	brain
22	chr6:45644800-45646200	Enhancers	NH-A	brain
23	chr6:45644800-45646400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr6:45644800-45646400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr6:45644800-45647000	Enhancers	Fetal Kidney	kidney
26	chr6:45645000-45645800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr6:45645000-45645800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr6:45645000-45645800	Enhancers	Fetal Intestine Large	intestine
29	chr6:45645000-45645800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr6:45645000-45645800	Flanking Active TSS	HUVEC	blood vessel
31	chr6:45645000-45645800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr6:45645000-45645800	Flanking Active TSS	Osteobl	bone
33	chr6:45645000-45646000	Enhancers	Fetal Intestine Small	intestine
34	chr6:45645000-45646000	Enhancers	Fetal Muscle Trunk	muscle
35	chr6:45645000-45646200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:45645000-45646200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr6:45645000-45646200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:45645000-45646200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:45645000-45646200	Enhancers	Brain Hippocampus Middle	brain
40	chr6:45645000-45646200	Enhancers	Esophagus	oesophagus
41	chr6:45645000-45646400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:45645000-45646400	Enhancers	Placenta	Placenta
43	chr6:45645000-45646400	Enhancers	Fetal Stomach	stomach
44	chr6:45645000-45647200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:45645200-45645800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:45645200-45646000	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr6:45645200-45646000	Enhancers	Placenta Amnion	Placenta Amnion
48	chr6:45645200-45646400	Enhancers	Fetal Brain Female	brain
49	chr6:45645200-45646400	Enhancers	Spleen	Spleen
50	chr6:45645400-45645800	Enhancers	Rectal Smooth Muscle	rectum

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