Variant report

Variant	rs8038518
Chromosome Location	chr15:77717039-77717040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr15:77716740-77717065	SH-SY5Y	brain:	n/a	n/a
2	GATA3	chr15:77716889-77717075	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:77715788..77717648-chr15:77719796..77722237,2	K562	blood:
2	chr15:77709335..77715793-chr15:77716367..77723204,14	MCF-7	breast:

Variant related genes	Relation type
PEAK1	TF binding region
ENSG00000140382	Chromatin interaction
ENSG00000173517	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11636405	0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1191198	1.00[AMR][1000 genomes]
rs8028686	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs937236	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1045376	chr15:77354671-77801487	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv542443	chr15:77354671-77801487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv482689	chr15:77576396-77731559	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr15:77713600-77720400	Weak transcription	Spleen	Spleen
2	chr15:77714000-77719200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr15:77714000-77719600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr15:77714000-77726400	Weak transcription	Small Intestine	intestine
5	chr15:77714000-77727600	Weak transcription	Left Ventricle	heart
6	chr15:77714000-77748600	Weak transcription	Placenta	Placenta
7	chr15:77714200-77720400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr15:77714200-77721400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr15:77714400-77718000	Enhancers	Liver	Liver
10	chr15:77714400-77719400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr15:77714400-77720200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr15:77714400-77722600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr15:77714400-77722800	Weak transcription	Right Ventricle	heart
14	chr15:77714400-77732400	Weak transcription	HSMM	muscle
15	chr15:77714400-77732800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr15:77714400-77739200	Weak transcription	Right Atrium	heart
17	chr15:77714400-77741600	Weak transcription	Fetal Thymus	thymus
18	chr15:77714600-77718000	Enhancers	HepG2	liver
19	chr15:77714600-77720400	Weak transcription	Osteobl	bone
20	chr15:77714600-77722400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr15:77714600-77722600	Weak transcription	Brain Angular Gyrus	brain
22	chr15:77714600-77727400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr15:77714600-77732800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr15:77714600-77734400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr15:77714800-77717800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr15:77714800-77718000	Active TSS	GM12878-XiMat	blood
27	chr15:77714800-77718400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr15:77714800-77723800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr15:77714800-77739200	Weak transcription	Fetal Intestine Small	intestine
30	chr15:77715000-77719400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr15:77715000-77740600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:77715200-77718800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:77715400-77717600	Enhancers	Brain Substantia Nigra	brain
34	chr15:77715400-77719000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr15:77715400-77733800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr15:77715400-77737800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr15:77715600-77718200	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr15:77715600-77718400	Weak transcription	Primary B cells from cord blood	blood
39	chr15:77715600-77718800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr15:77715600-77718800	Weak transcription	Fetal Kidney	kidney
41	chr15:77715800-77717200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr15:77715800-77718000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr15:77716000-77733800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr15:77716200-77717400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr15:77716200-77718400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr15:77716200-77730200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:77716400-77717600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr15:77716400-77717600	Weak transcription	Stomach Mucosa	stomach
49	chr15:77716400-77734200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr15:77716400-77741400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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