Variant report

Variant	rs1027231
Chromosome Location	chr15:40077970-40077971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40071940..40073797-chr15:40075323..40078036,2	MCF-7	breast:
2	chr15:39877336..39879438-chr15:40075503..40079395,4	MCF-7	breast:
3	chr15:39981160..39982810-chr15:40077322..40078856,2	K562	blood:
4	chr15:40076890..40079993-chr15:40222713..40226528,3	K562	blood:
5	chr15:40077135..40079271-chr15:40079393..40081898,2	MCF-7	breast:
6	chr15:40077399..40079202-chr15:40164859..40166897,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128829	Chromatin interaction
ENSG00000137801	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1027230	1.00[AFR][1000 genomes]
rs1166719	1.00[AFR][1000 genomes]
rs1166720	1.00[AFR][1000 genomes]
rs1166726	0.95[AFR][1000 genomes]
rs1688088	1.00[AFR][1000 genomes]
rs2631691	1.00[AFR][1000 genomes]
rs2631716	1.00[AFR][1000 genomes]
rs2631719	1.00[AFR][1000 genomes]
rs2638008	1.00[AFR][1000 genomes]
rs2638011	1.00[AFR][1000 genomes]
rs589137	0.95[AFR][1000 genomes]
rs596717	1.00[AFR][1000 genomes]
rs603993	0.95[AFR][1000 genomes]
rs612775	1.00[AFR][1000 genomes]
rs621970	0.81[AFR][1000 genomes]
rs623984	1.00[AFR][1000 genomes]
rs628076	1.00[AFR][1000 genomes]
rs653964	0.95[AFR][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	nsv832978	chr15:39899759-40094881	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv832979	chr15:40041928-40218407	Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40075600-40078400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr15:40075800-40078400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:40075800-40078600	Weak transcription	Left Ventricle	heart
4	chr15:40075800-40078800	Enhancers	Fetal Brain Male	brain
5	chr15:40075800-40079400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:40075800-40080600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr15:40076000-40078000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr15:40076000-40079600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr15:40076000-40080600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr15:40076000-40081000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr15:40076000-40103200	Weak transcription	Right Atrium	heart
12	chr15:40076200-40078800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr15:40076200-40079800	Weak transcription	Pancreas	Pancrea
14	chr15:40076200-40080000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr15:40076200-40080800	Weak transcription	Primary B cells from cord blood	blood
16	chr15:40076200-40081400	Weak transcription	Fetal Kidney	kidney
17	chr15:40076400-40078000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr15:40076400-40078000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:40076400-40078000	Enhancers	Dnd41	blood
20	chr15:40076400-40078200	Weak transcription	Brain Hippocampus Middle	brain
21	chr15:40076400-40078600	Weak transcription	Liver	Liver
22	chr15:40076400-40078800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr15:40076400-40079000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr15:40076400-40079200	Enhancers	Hela-S3	cervix
25	chr15:40076400-40080600	Weak transcription	Thymus	Thymus
26	chr15:40076600-40078000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr15:40076600-40078000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr15:40076600-40078400	Weak transcription	Brain Substantia Nigra	brain
29	chr15:40076600-40078400	Weak transcription	Fetal Heart	heart
30	chr15:40076600-40078400	Weak transcription	K562	blood
31	chr15:40076600-40078600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr15:40076600-40078600	Weak transcription	A549	lung
33	chr15:40076600-40078600	Weak transcription	HepG2	liver
34	chr15:40076600-40079000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:40076600-40079400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:40076600-40079800	Weak transcription	Fetal Thymus	thymus
37	chr15:40076600-40080000	Enhancers	HMEC	breast
38	chr15:40076600-40080200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr15:40076600-40080600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr15:40076600-40080600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr15:40076600-40081600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:40076600-40082000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr15:40076600-40082400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:40076600-40082600	Weak transcription	Primary T cells from cord blood	blood
45	chr15:40076600-40084200	Weak transcription	Adipose Nuclei	Adipose
46	chr15:40076600-40086200	Weak transcription	Fetal Muscle Leg	muscle
47	chr15:40076600-40090200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr15:40076600-40092600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr15:40076800-40078400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr15:40076800-40078600	Weak transcription	Primary hematopoietic stem cells	blood

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