Variant report

Variant	rs74008875
Chromosome Location	chr15:40078084-40078085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:40078000-40078150	HPF	lung:	n/a	n/a
2	MXI1	chr15:40078042-40079315	SK-N-SH	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
FSIP1	TF binding region
ENSG00000128829	Chromatin interaction
ENSG00000137801	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1684931	1.00[EUR][1000 genomes]
rs16969843	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16969863	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs175727	1.00[EUR][1000 genomes]
rs2164482	1.00[EUR][1000 genomes]
rs2171313	1.00[AFR][1000 genomes]
rs55633725	1.00[EUR][1000 genomes]
rs56058711	1.00[EUR][1000 genomes]
rs56933828	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57014511	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57761246	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58280876	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58367323	1.00[EUR][1000 genomes]
rs58436679	1.00[EUR][1000 genomes]
rs58766307	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs592772	1.00[EUR][1000 genomes]
rs59701034	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60642936	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs643897	1.00[EUR][1000 genomes]
rs644743	1.00[EUR][1000 genomes]
rs655289	1.00[EUR][1000 genomes]
rs7179252	1.00[EUR][1000 genomes]
rs74008885	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74008889	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74008890	1.00[EUR][1000 genomes]
rs74008974	1.00[EUR][1000 genomes]
rs74008978	1.00[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	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:98 , 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	chr15:40076000-40079600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr15:40076000-40080600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr15:40076000-40081000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:40076000-40103200	Weak transcription	Right Atrium	heart
11	chr15:40076200-40078800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr15:40076200-40079800	Weak transcription	Pancreas	Pancrea
13	chr15:40076200-40080000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr15:40076200-40080800	Weak transcription	Primary B cells from cord blood	blood
15	chr15:40076200-40081400	Weak transcription	Fetal Kidney	kidney
16	chr15:40076400-40078200	Weak transcription	Brain Hippocampus Middle	brain
17	chr15:40076400-40078600	Weak transcription	Liver	Liver
18	chr15:40076400-40078800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr15:40076400-40079000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr15:40076400-40079200	Enhancers	Hela-S3	cervix
21	chr15:40076400-40080600	Weak transcription	Thymus	Thymus
22	chr15:40076600-40078400	Weak transcription	Brain Substantia Nigra	brain
23	chr15:40076600-40078400	Weak transcription	Fetal Heart	heart
24	chr15:40076600-40078400	Weak transcription	K562	blood
25	chr15:40076600-40078600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr15:40076600-40078600	Weak transcription	A549	lung
27	chr15:40076600-40078600	Weak transcription	HepG2	liver
28	chr15:40076600-40079000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:40076600-40079400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:40076600-40079800	Weak transcription	Fetal Thymus	thymus
31	chr15:40076600-40080000	Enhancers	HMEC	breast
32	chr15:40076600-40080200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr15:40076600-40080600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr15:40076600-40080600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr15:40076600-40081600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:40076600-40082000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr15:40076600-40082400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr15:40076600-40082600	Weak transcription	Primary T cells from cord blood	blood
39	chr15:40076600-40084200	Weak transcription	Adipose Nuclei	Adipose
40	chr15:40076600-40086200	Weak transcription	Fetal Muscle Leg	muscle
41	chr15:40076600-40090200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr15:40076600-40092600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr15:40076800-40078400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr15:40076800-40078600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr15:40076800-40078800	Enhancers	HUVEC	blood vessel
46	chr15:40076800-40082200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr15:40076800-40082400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr15:40077000-40078600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr15:40077000-40078800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr15:40077200-40078200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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