Variant report

Variant	rs4923947
Chromosome Location	chr15:42791703-42791704
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42781216..42785618-chr15:42786050..42793334,15	K562	blood:
2	chr15:42786351..42790033-chr15:42790160..42794805,5	K562	blood:
3	chr15:42782381..42786334-chr15:42789829..42792638,5	K562	blood:

Variant related genes	Relation type
ENSG00000103994	Chromatin interaction
ENSG00000092531	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10454039	0.92[ASN][1000 genomes]
rs10851411	0.81[CHB][hapmap];1.00[CHD][hapmap];0.91[ASN][1000 genomes]
rs11070374	0.81[CHB][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs11638208	0.85[ASN][1000 genomes]
rs12101559	0.91[GIH][hapmap]
rs12324113	0.95[ASN][1000 genomes]
rs12438240	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12903432	0.98[ASN][1000 genomes]
rs12906697	0.93[ASN][1000 genomes]
rs16957043	1.00[CEU][hapmap]
rs2241998	0.84[CHD][hapmap]
rs2255995	0.97[ASN][1000 genomes]
rs2595939	0.98[ASN][1000 genomes]
rs2595940	0.94[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.98[ASN][1000 genomes]
rs2595941	0.98[ASN][1000 genomes]
rs2617236	0.94[CHB][hapmap];0.96[CHD][hapmap];0.88[JPT][hapmap];0.97[ASN][1000 genomes]
rs2617238	1.00[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap]
rs28364393	1.00[CEU][hapmap]
rs28745877	0.83[EUR][1000 genomes]
rs2899057	0.92[ASN][1000 genomes]
rs3742996	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4573906	0.98[ASN][1000 genomes]
rs4924677	0.83[EUR][1000 genomes]
rs4924679	0.83[EUR][1000 genomes]
rs4924682	0.83[EUR][1000 genomes]
rs55671734	0.83[EUR][1000 genomes]
rs57734638	0.86[EUR][1000 genomes]
rs58567518	0.83[EUR][1000 genomes]
rs59091866	0.83[EUR][1000 genomes]
rs59206762	0.83[EUR][1000 genomes]
rs59414917	0.83[EUR][1000 genomes]
rs59908459	0.83[EUR][1000 genomes]
rs60328984	0.83[EUR][1000 genomes]
rs7169767	0.83[EUR][1000 genomes]
rs7180315	0.83[EUR][1000 genomes]
rs73402745	0.83[EUR][1000 genomes]
rs8026817	0.86[EUR][1000 genomes]
rs8036255	0.83[EUR][1000 genomes]
rs9302112	0.94[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.97[ASN][1000 genomes]
rs934876	1.00[CEU][hapmap]

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	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv832987	chr15:42627447-42792348	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv3334708	chr15:42664344-42827738	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42788400-42808000	Weak transcription	Esophagus	oesophagus
2	chr15:42788600-42792400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr15:42788600-42798400	Weak transcription	Ovary	ovary
4	chr15:42788600-42805600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr15:42788600-42806600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:42788600-42807200	Weak transcription	Fetal Kidney	kidney
7	chr15:42788800-42792000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr15:42788800-42792200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:42788800-42792200	Weak transcription	Right Atrium	heart
10	chr15:42788800-42792400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr15:42788800-42793000	Weak transcription	Brain Substantia Nigra	brain
12	chr15:42788800-42793600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr15:42788800-42797000	Weak transcription	HSMMtube	muscle
14	chr15:42788800-42800400	Weak transcription	Fetal Lung	lung
15	chr15:42788800-42805200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr15:42788800-42805400	Weak transcription	Brain Germinal Matrix	brain
17	chr15:42789000-42791800	Enhancers	Duodenum Mucosa	Duodenum
18	chr15:42789000-42791800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr15:42789000-42792000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr15:42789000-42792000	Weak transcription	NHLF	lung
21	chr15:42789000-42792200	Weak transcription	Fetal Heart	heart
22	chr15:42789000-42792400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:42789000-42793000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr15:42789000-42794000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:42789000-42797000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr15:42789000-42797000	Weak transcription	Brain Angular Gyrus	brain
27	chr15:42789000-42803400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr15:42789000-42805400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr15:42789000-42806400	Weak transcription	Thymus	Thymus
30	chr15:42789200-42791800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr15:42789200-42791800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:42789200-42792000	Weak transcription	Fetal Muscle Leg	muscle
33	chr15:42789200-42792600	Enhancers	Fetal Intestine Large	intestine
34	chr15:42789200-42793000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr15:42789200-42793000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr15:42789200-42793200	Weak transcription	Brain Anterior Caudate	brain
37	chr15:42789200-42794000	Enhancers	Placenta	Placenta
38	chr15:42789200-42796800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:42789200-42798400	Weak transcription	Primary T cells from cord blood	blood
40	chr15:42789200-42800600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr15:42789200-42802400	Weak transcription	Fetal Brain Female	brain
42	chr15:42789200-42804400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr15:42789200-42805800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr15:42789200-42806600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr15:42789400-42792200	Weak transcription	Primary B cells from cord blood	blood
46	chr15:42789600-42792400	Genic enhancers	Fetal Intestine Small	intestine
47	chr15:42789600-42793800	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr15:42789800-42792200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr15:42789800-42792400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:42790000-42792200	Enhancers	Sigmoid Colon	Sigmoid Colon

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