Variant report

Variant	rs9990976
Chromosome Location	chr4:95400472-95400473
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95392600..95395263-chr4:95399484..95402281,2	K562	blood:
2	chr4:95372993..95375546-chr4:95399640..95402667,3	K562	blood:
3	chr4:95398573..95401933-chr4:95402630..95406147,4	K562	blood:
4	chr4:95391486..95396177-chr4:95398178..95402962,4	K562	blood:
5	chr4:95399809..95401815-chr4:95403356..95405505,3	K562	blood:
6	chr4:95373234..95374778-chr4:95399640..95401902,2	K562	blood:

Variant related genes	Relation type
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1493109	0.80[CEU][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17378777	0.81[CEU][hapmap]
rs2433320	0.81[CEU][hapmap]
rs2433322	0.81[CEU][hapmap]
rs2433323	0.81[EUR][1000 genomes]
rs2433327	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2438140	0.91[ASW][hapmap];0.86[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2438146	0.81[CEU][hapmap];0.82[MEX][hapmap]
rs2452010	0.82[MEX][hapmap]
rs2452553	0.84[EUR][1000 genomes]
rs2452555	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2452563	0.82[MEX][hapmap]
rs2510762	0.82[AMR][1000 genomes]
rs2510763	0.81[CEU][hapmap]
rs2510764	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2510781	0.82[MEX][hapmap]
rs2555215	0.85[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7697295	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs774984	0.80[CEU][hapmap];0.84[GIH][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]

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	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95375000-95440200	Weak transcription	Primary T cells from cord blood	blood
2	chr4:95375800-95401600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:95387400-95410000	Weak transcription	NHLF	lung
4	chr4:95387400-95420800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:95389600-95406000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:95393800-95401600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:95393800-95405600	Weak transcription	HSMMtube	muscle
8	chr4:95394000-95405000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:95394200-95401400	Weak transcription	Brain Anterior Caudate	brain
10	chr4:95394200-95404800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:95394400-95400600	Weak transcription	Adipose Nuclei	Adipose
12	chr4:95394400-95405800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:95394400-95407000	Weak transcription	NH-A	brain
14	chr4:95394400-95407800	Weak transcription	Aorta	Aorta
15	chr4:95394400-95419200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:95394400-95428000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:95394600-95406000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:95395000-95400600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr4:95395400-95405000	Weak transcription	HSMM	muscle
20	chr4:95396600-95419000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr4:95396800-95410000	Weak transcription	Fetal Intestine Large	intestine
22	chr4:95397800-95400600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr4:95398000-95401400	Weak transcription	HepG2	liver
24	chr4:95398400-95401600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr4:95398400-95407600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:95398400-95408800	Weak transcription	Brain Substantia Nigra	brain
27	chr4:95398400-95428400	Weak transcription	Small Intestine	intestine
28	chr4:95398600-95400600	Weak transcription	HUVEC	blood vessel
29	chr4:95398600-95401000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr4:95398600-95401600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:95398600-95401600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr4:95398600-95403400	Weak transcription	Fetal Muscle Leg	muscle
33	chr4:95398600-95405800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr4:95399000-95400600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr4:95399000-95400600	Weak transcription	Colon Smooth Muscle	Colon
36	chr4:95399000-95400800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:95399000-95400800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:95399000-95401000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr4:95399000-95401000	Weak transcription	Stomach Mucosa	stomach
40	chr4:95399000-95401200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr4:95399000-95401400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr4:95399000-95401400	Weak transcription	Gastric	stomach
43	chr4:95399000-95401600	Weak transcription	Esophagus	oesophagus
44	chr4:95399000-95401600	Weak transcription	Psoas Muscle	Psoas
45	chr4:95399000-95404600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr4:95399000-95409800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:95399200-95400600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr4:95399200-95401600	Weak transcription	Ovary	ovary
49	chr4:95399200-95401600	Weak transcription	Right Atrium	heart
50	chr4:95399600-95402000	Enhancers	HUES48 Cell Line	embryonic stem cell

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