Variant report

Variant	rs11633768
Chromosome Location	chr15:74498188-74498189
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:74496432..74499341-chr15:74503073..74505170,2	MCF-7	breast:
2	chr15:74495538..74499115-chr15:74503082..74506667,3	MCF-7	breast:
3	chr15:74497610..74499444-chr15:74504967..74507735,2	K562	blood:
4	chr15:74497783..74499933-chr15:74500852..74503314,2	K562	blood:

Variant related genes	Relation type
ENSG00000137868	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10152959	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11638831	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12915846	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs427165	0.88[GIH][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833053	chr15:74360156-74555140	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv833054	chr15:74457643-74625283	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv904345	chr15:74458181-74526596	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv904346	chr15:74458181-74548773	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv904347	chr15:74462629-74537101	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv904348	chr15:74462629-74542686	Genic enhancers Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv471253	chr15:74489207-74545148	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11633768	NCRNA00277	cis	parietal	SCAN
rs11633768	HCN4	cis	cerebellum	SCAN
rs11633768	MYO9A	cis	cerebellum	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74489200-74509600	Weak transcription	Gastric	stomach
2	chr15:74489400-74499000	Weak transcription	Brain Anterior Caudate	brain
3	chr15:74491000-74503200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:74492600-74503200	Enhancers	Fetal Muscle Leg	muscle
5	chr15:74494000-74498400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr15:74494000-74500200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr15:74494200-74501000	Weak transcription	HSMM	muscle
8	chr15:74494400-74498400	Enhancers	Primary hematopoietic stem cells	blood
9	chr15:74494400-74500200	Enhancers	Fetal Brain Male	brain
10	chr15:74494600-74498400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:74495800-74498200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:74495800-74499600	Enhancers	Brain Germinal Matrix	brain
13	chr15:74495800-74500200	Enhancers	Fetal Thymus	thymus
14	chr15:74496400-74500200	Enhancers	Fetal Brain Female	brain
15	chr15:74496600-74498200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:74496600-74498200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:74496600-74499000	Weak transcription	Fetal Intestine Large	intestine
18	chr15:74496600-74499000	Weak transcription	Fetal Kidney	kidney
19	chr15:74496800-74498200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr15:74496800-74498200	Enhancers	Lung	lung
21	chr15:74496800-74498400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr15:74496800-74499000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr15:74496800-74499200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:74496800-74500600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr15:74496800-74501200	Enhancers	Spleen	Spleen
26	chr15:74496800-74501600	Weak transcription	A549	lung
27	chr15:74497000-74499800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr15:74497000-74500000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr15:74497000-74500000	Enhancers	Fetal Muscle Trunk	muscle
30	chr15:74497000-74501200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr15:74497000-74505800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr15:74497200-74499000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:74497400-74498200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
34	chr15:74497400-74498200	Enhancers	Adipose Nuclei	Adipose
35	chr15:74497400-74498200	Enhancers	Fetal Heart	heart
36	chr15:74497400-74498200	Enhancers	Right Atrium	heart
37	chr15:74497400-74498200	Enhancers	Right Ventricle	heart
38	chr15:74497400-74498400	Enhancers	Left Ventricle	heart
39	chr15:74497400-74498400	Weak transcription	Hela-S3	cervix
40	chr15:74497400-74501000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr15:74497600-74498200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr15:74497600-74498200	Enhancers	Thymus	Thymus
43	chr15:74497600-74500200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr15:74497600-74501400	Weak transcription	Osteobl	bone
45	chr15:74497600-74502000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr15:74497800-74498600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr15:74497800-74499800	Weak transcription	GM12878-XiMat	blood
48	chr15:74498000-74498200	Enhancers	H9 Cell Line	embryonic stem cell
49	chr15:74498000-74498400	ZNF genes & repeats	Fetal Stomach	stomach
50	chr15:74498000-74498800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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