Variant report

Variant	rs8030211
Chromosome Location	chr15:40864387-40864388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs55675456	1.00[AFR][1000 genomes]
rs57070503	1.00[AFR][1000 genomes]
rs58990578	1.00[AFR][1000 genomes]
rs61028075	1.00[AFR][1000 genomes]
rs74011927	1.00[AFR][1000 genomes]
rs74011928	1.00[AFR][1000 genomes]
rs8031130	1.00[AFR][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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv832984	chr15:40794391-40998535	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2758378	chr15:40832545-40995111	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2760026	chr15:40832545-40995111	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40862400-40865600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:40862400-40865600	Weak transcription	Esophagus	oesophagus
3	chr15:40862600-40865600	Weak transcription	Left Ventricle	heart
4	chr15:40862800-40864800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr15:40862800-40867000	Strong transcription	Fetal Muscle Trunk	muscle
6	chr15:40862800-40875200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr15:40863000-40864800	Weak transcription	HSMMtube	muscle
8	chr15:40863000-40865000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr15:40863000-40865200	Weak transcription	Right Atrium	heart
10	chr15:40863000-40865400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr15:40863000-40865600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:40863000-40865600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr15:40863000-40865600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr15:40863000-40865600	Weak transcription	Colon Smooth Muscle	Colon
15	chr15:40863000-40865600	Weak transcription	Psoas Muscle	Psoas
16	chr15:40863000-40865600	Weak transcription	A549	lung
17	chr15:40863000-40865600	Weak transcription	HSMM	muscle
18	chr15:40863000-40865800	Weak transcription	Colonic Mucosa	Colon
19	chr15:40863000-40865800	Weak transcription	Small Intestine	intestine
20	chr15:40863000-40868200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr15:40863000-40870200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr15:40863000-40875000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr15:40863000-40875000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr15:40863200-40864800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr15:40863200-40864800	Weak transcription	Brain Substantia Nigra	brain
26	chr15:40863200-40865400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr15:40863200-40865400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr15:40863200-40865400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr15:40863200-40865600	Weak transcription	NH-A	brain
30	chr15:40863200-40867200	Strong transcription	Fetal Muscle Leg	muscle
31	chr15:40863200-40868600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr15:40863200-40868800	Weak transcription	Fetal Heart	heart
33	chr15:40863200-40869000	Weak transcription	Fetal Brain Male	brain
34	chr15:40863600-40864400	Genic enhancers	HepG2	liver
35	chr15:40863600-40864600	Strong transcription	HMEC	breast
36	chr15:40863600-40864600	Strong transcription	HUVEC	blood vessel
37	chr15:40863600-40865200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
38	chr15:40863600-40866400	Strong transcription	Fetal Kidney	kidney
39	chr15:40863600-40866600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:40863600-40866800	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr15:40863600-40866800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr15:40863600-40867000	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr15:40863600-40867000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr15:40863600-40867000	Strong transcription	Osteobl	bone
45	chr15:40863600-40867200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr15:40863600-40867200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr15:40863600-40867200	Strong transcription	Primary B cells from cord blood	blood
48	chr15:40863600-40867200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr15:40863600-40867200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:40863600-40867200	Strong transcription	Brain Anterior Caudate	brain

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