Variant report

Variant	rs4774921
Chromosome Location	chr15:57584896-57584897
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:57579113..57581094-chr15:57584110..57586984,2	K562	blood:
2	chr15:57576964..57581094-chr15:57584110..57586984,5	K562	blood:
3	chr15:57575333..57577796-chr15:57582092..57585036,2	K562	blood:
4	chr15:57582041..57585604-chr15:57586782..57591985,5	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11071308	0.86[JPT][hapmap]
rs11853810	0.86[JPT][hapmap]
rs11856210	0.85[JPT][hapmap]
rs16977278	0.86[JPT][hapmap]
rs16977329	0.96[YRI][hapmap]
rs16977374	0.83[ASN][1000 genomes]
rs1867639	0.96[YRI][hapmap]
rs1867641	0.83[ASW][hapmap];0.96[YRI][hapmap]
rs2593211	0.82[ASW][hapmap];0.86[JPT][hapmap]
rs2593217	1.00[YRI][hapmap]
rs2593221	1.00[YRI][hapmap]
rs2593249	0.86[JPT][hapmap]
rs2615226	0.81[AFR][1000 genomes]
rs2615227	0.85[JPT][hapmap]
rs2703599	1.00[YRI][hapmap]
rs2733316	0.96[YRI][hapmap]
rs2733317	0.96[YRI][hapmap]
rs2733323	1.00[ASW][hapmap];0.84[LWK][hapmap];0.88[MEX][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2733334	0.86[JPT][hapmap]
rs2733343	0.92[YRI][hapmap]
rs2733345	0.88[YRI][hapmap]
rs3803453	0.86[JPT][hapmap]
rs7164298	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs7173748	0.86[JPT][hapmap]
rs7180558	1.00[ASW][hapmap];0.81[JPT][hapmap];0.87[LWK][hapmap];0.84[MEX][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs8024901	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs8026702	0.86[JPT][hapmap]
rs8034502	0.86[JPT][hapmap]
rs8034843	0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs8037956	0.81[ASN][1000 genomes]
rs8037987	1.00[YRI][hapmap]
rs8039176	0.81[ASN][1000 genomes]
rs8042322	1.00[YRI][hapmap]
rs8043103	1.00[YRI][hapmap]
rs935329	0.96[YRI][hapmap]
rs997683	0.86[JPT][hapmap];1.00[YRI][hapmap]

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	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv833021	chr15:57495413-57751366	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv526342	chr15:57565859-57597280	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4774921	LEO1	cis	cerebellum	SCAN

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57522800-57585000	Strong transcription	Fetal Thymus	thymus
2	chr15:57537800-57598200	Weak transcription	Colonic Mucosa	Colon
3	chr15:57552200-57588600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:57553200-57585000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:57557600-57588600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:57566000-57591600	Weak transcription	Esophagus	oesophagus
7	chr15:57568000-57588400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:57568000-57590600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:57568200-57591600	Weak transcription	Psoas Muscle	Psoas
10	chr15:57573800-57589000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr15:57575000-57589200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr15:57578200-57589200	Weak transcription	Pancreas	Pancrea
13	chr15:57578600-57591600	Weak transcription	Spleen	Spleen
14	chr15:57578600-57598200	Weak transcription	Right Ventricle	heart
15	chr15:57578800-57588400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr15:57578800-57592800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr15:57579200-57585000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr15:57579200-57585600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:57579200-57588600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr15:57579200-57589600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr15:57579200-57592800	Weak transcription	Small Intestine	intestine
22	chr15:57579600-57589200	Weak transcription	Brain Substantia Nigra	brain
23	chr15:57579600-57598200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr15:57579800-57588800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:57579800-57589200	Weak transcription	Brain Anterior Caudate	brain
26	chr15:57579800-57590400	Weak transcription	Brain Angular Gyrus	brain
27	chr15:57579800-57595000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr15:57580000-57588000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr15:57580000-57598400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr15:57580000-57598400	Weak transcription	Fetal Brain Male	brain
31	chr15:57580000-57598400	Weak transcription	NHEK	skin
32	chr15:57580200-57588600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr15:57580200-57588600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr15:57580200-57589000	Weak transcription	Fetal Brain Female	brain
35	chr15:57580200-57589200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr15:57580400-57585000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr15:57580400-57588800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:57580400-57589200	Weak transcription	HMEC	breast
39	chr15:57580600-57594800	Weak transcription	HepG2	liver
40	chr15:57580800-57589000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr15:57581000-57591600	Weak transcription	NHLF	lung
42	chr15:57581200-57591000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr15:57581400-57585200	Weak transcription	HUVEC	blood vessel
44	chr15:57581400-57590800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr15:57581600-57595000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr15:57581800-57590600	Weak transcription	NH-A	brain
47	chr15:57582200-57588600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr15:57582600-57585000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
49	chr15:57582800-57585000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr15:57583000-57586400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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