Variant report

Variant	rs7497289
Chromosome Location	chr15:40333657-40333658
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40331646..40335428-chr15:40336590..40339827,4	K562	blood:
2	chr15:40332333..40335315-chr15:40395513..40398387,3	MCF-7	breast:
3	chr15:40331043..40332916-chr15:40333481..40335882,3	MCF-7	breast:
4	chr15:40332774..40337127-chr15:40449212..40452234,6	K562	blood:
5	chr15:40333125..40335959-chr15:40396461..40399389,2	K562	blood:
6	chr15:40331030..40332953-chr15:40333015..40336331,4	K562	blood:

Variant related genes	Relation type
ENSG00000248508	Chromatin interaction
ENSG00000104081	Chromatin interaction
ENSG00000140319	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1010879	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070250	0.87[EUR][1000 genomes]
rs11631442	1.00[ASN][1000 genomes]
rs12899649	1.00[CHB][hapmap]
rs12912442	1.00[CHB][hapmap]
rs16924528	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17722502	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17722526	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17723133	0.94[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2412456	1.00[CHB][hapmap]
rs2412478	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28444847	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28515996	1.00[ASN][1000 genomes]
rs28736699	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28826672	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35781999	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3923235	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4497657	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924410	0.94[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4924413	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924417	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62004114	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62004158	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71132133	1.00[ASN][1000 genomes]
rs7181230	0.80[CEU][hapmap]
rs7183977	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs72731415	1.00[ASN][1000 genomes]
rs749748	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8026641	0.94[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs937213	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9919974	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9972424	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv428635	chr15:40274500-40436293	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats 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	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40331800-40339400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr15:40332000-40336400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr15:40332000-40337000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr15:40332000-40337000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:40332000-40337000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr15:40332000-40337000	Weak transcription	Fetal Kidney	kidney
7	chr15:40332000-40337000	Weak transcription	Fetal Lung	lung
8	chr15:40332000-40337200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr15:40332000-40337200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:40332000-40337200	Weak transcription	Brain Germinal Matrix	brain
11	chr15:40332000-40339800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:40332400-40336600	Weak transcription	HSMMtube	muscle
13	chr15:40332400-40336600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr15:40332400-40336800	Weak transcription	Primary B cells from cord blood	blood
15	chr15:40332400-40336800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr15:40332400-40336800	Weak transcription	Esophagus	oesophagus
17	chr15:40332400-40336800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr15:40332400-40337000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr15:40332400-40337000	Weak transcription	Fetal Brain Male	brain
20	chr15:40332400-40337000	Weak transcription	NH-A	brain
21	chr15:40332400-40337000	Weak transcription	Osteobl	bone
22	chr15:40332400-40337200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr15:40332400-40339400	Weak transcription	Gastric	stomach
24	chr15:40332400-40339400	Weak transcription	Right Atrium	heart
25	chr15:40332600-40336400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr15:40332600-40336400	Weak transcription	Brain Substantia Nigra	brain
27	chr15:40332600-40336600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr15:40332600-40336600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:40332600-40336800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr15:40332600-40336800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr15:40332600-40336800	Weak transcription	Fetal Stomach	stomach
32	chr15:40332600-40336800	Weak transcription	Hela-S3	cervix
33	chr15:40332600-40337000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr15:40332600-40337000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:40332600-40337000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr15:40332600-40337000	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr15:40332600-40337000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr15:40332600-40337000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:40332600-40337000	Weak transcription	Brain Hippocampus Middle	brain
40	chr15:40332600-40337000	Weak transcription	Colon Smooth Muscle	Colon
41	chr15:40332600-40337000	Weak transcription	HMEC	breast
42	chr15:40332600-40337000	Weak transcription	HUVEC	blood vessel
43	chr15:40332600-40337200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr15:40332600-40337800	Weak transcription	Small Intestine	intestine
45	chr15:40332800-40334400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr15:40332800-40336200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr15:40332800-40336600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr15:40332800-40336600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr15:40332800-40336600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr15:40332800-40336600	Weak transcription	Rectal Mucosa Donor 31	rectum

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