Variant report

Variant	rs954927
Chromosome Location	chr4:175139060-175139061
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:175132325..175134757-chr4:175137089..175139873,3	K562	blood:
2	chr4:175138901..175140871-chr4:175212550..175215398,2	K562	blood:
3	chr4:175137442..175140324-chr4:175142017..175143698,2	K562	blood:
4	chr4:175132325..175133854-chr4:175137410..175139370,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10434410	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10520278	0.81[ASN][1000 genomes]
rs13137178	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1396193	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17060395	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17060404	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17060428	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17060454	0.80[ASN][1000 genomes]
rs35190385	0.80[ASN][1000 genomes]
rs35593724	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35689614	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62335793	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62335798	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs66919862	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6840664	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7671444	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7696841	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs906569	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs906570	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][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	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv881449	chr4:174984230-175225452	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175137200-175139200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
2	chr4:175137400-175139600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:175137400-175139600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
4	chr4:175137600-175139200	Bivalent Enhancer	Fetal Thymus	thymus
5	chr4:175137600-175139400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:175137600-175139800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr4:175137800-175139400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:175137800-175139600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr4:175137800-175139600	Bivalent Enhancer	Stomach Mucosa	stomach
10	chr4:175137800-175139800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:175138000-175139200	Bivalent Enhancer	Spleen	Spleen
12	chr4:175138000-175139400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
13	chr4:175138000-175139600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:175138000-175139600	Bivalent Enhancer	Esophagus	oesophagus
15	chr4:175138000-175139800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr4:175138000-175139800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:175138200-175139200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:175138200-175139200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
19	chr4:175138200-175139400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
20	chr4:175138200-175139400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
21	chr4:175138200-175139600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
22	chr4:175138200-175139600	Bivalent Enhancer	Brain Angular Gyrus	brain
23	chr4:175138200-175139600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
24	chr4:175138200-175139800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
25	chr4:175138200-175139800	Bivalent Enhancer	HUVEC	blood vessel
26	chr4:175138200-175140000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr4:175138200-175140000	Enhancers	Lung	lung
28	chr4:175138400-175139200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
29	chr4:175138400-175139200	Flanking Bivalent TSS/Enh	Liver	Liver
30	chr4:175138400-175139200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
31	chr4:175138400-175139200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
32	chr4:175138400-175139200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
33	chr4:175138400-175139200	Flanking Bivalent TSS/Enh	Placenta	Placenta
34	chr4:175138400-175139200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
35	chr4:175138400-175139200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
36	chr4:175138400-175139200	Flanking Bivalent TSS/Enh	NHEK	skin
37	chr4:175138400-175139400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
38	chr4:175138400-175139400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:175138400-175139400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
40	chr4:175138400-175139400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
41	chr4:175138400-175139600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
42	chr4:175138400-175139600	Active TSS	Aorta	Aorta
43	chr4:175138400-175139800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
44	chr4:175138400-175139800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:175138400-175139800	Bivalent Enhancer	Brain Germinal Matrix	brain
46	chr4:175138400-175139800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
47	chr4:175138400-175140000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
48	chr4:175138400-175140000	Enhancers	Gastric	stomach
49	chr4:175138600-175139200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:175138600-175139200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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