Variant report

Variant	rs9991048
Chromosome Location	chr4:99432793-99432794
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10030622	0.82[JPT][hapmap];0.86[AMR][1000 genomes]
rs17027701	0.82[JPT][hapmap]
rs1881450	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs28618327	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs28784902	0.86[AMR][1000 genomes]
rs4554081	1.00[JPT][hapmap]
rs4699347	0.82[JPT][hapmap]
rs4699649	0.81[AMR][1000 genomes]
rs7679987	1.00[JPT][hapmap]
rs7691924	1.00[JPT][hapmap]
rs8180171	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv879651	chr4:99105055-99441349	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99397600-99439400	Weak transcription	Primary B cells from cord blood	blood
2	chr4:99417800-99438600	Weak transcription	Right Atrium	heart
3	chr4:99419600-99436400	Weak transcription	HUVEC	blood vessel
4	chr4:99420200-99435800	Weak transcription	Spleen	Spleen
5	chr4:99420400-99436400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr4:99420400-99436400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:99423000-99434200	Weak transcription	Aorta	Aorta
8	chr4:99423000-99434200	Weak transcription	Esophagus	oesophagus
9	chr4:99425000-99436200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr4:99425600-99434200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:99427800-99432800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:99430000-99432800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr4:99430000-99432800	Enhancers	Fetal Lung	lung
14	chr4:99430000-99432800	Enhancers	NHLF	lung
15	chr4:99430200-99432800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:99430200-99432800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:99430200-99432800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:99430200-99432800	Enhancers	Osteobl	bone
19	chr4:99430400-99432800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:99430800-99432800	Enhancers	Dnd41	blood
21	chr4:99430800-99433000	Weak transcription	Fetal Kidney	kidney
22	chr4:99430800-99433800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:99431000-99432800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:99431000-99432800	Enhancers	NHEK	skin
25	chr4:99431000-99433200	Enhancers	NHDF-Ad	bronchial
26	chr4:99431000-99435600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:99431200-99433600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:99431200-99434000	Weak transcription	Fetal Intestine Small	intestine
29	chr4:99431200-99436000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:99431200-99436000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:99431200-99436200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:99431200-99439600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:99431200-99443600	Weak transcription	Fetal Brain Male	brain
34	chr4:99431400-99432800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr4:99431400-99436200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:99431400-99436400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr4:99431400-99436600	Weak transcription	Brain Germinal Matrix	brain
38	chr4:99431600-99432800	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr4:99431600-99433800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:99431600-99434000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:99431600-99435600	Weak transcription	K562	blood
42	chr4:99431600-99436000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr4:99431600-99436600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:99431800-99432800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr4:99431800-99433000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr4:99431800-99433400	Weak transcription	Fetal Heart	heart
47	chr4:99431800-99438600	Weak transcription	Stomach Mucosa	stomach
48	chr4:99432000-99432800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr4:99432000-99432800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr4:99432000-99435800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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