Variant report

Variant	rs950152
Chromosome Location	chr4:99508249-99508250
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99499694..99502354-chr4:99504624..99508480,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10033777	0.84[EUR][1000 genomes]
rs10489125	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11938326	0.95[EUR][1000 genomes]
rs11938479	0.95[EUR][1000 genomes]
rs1528548	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17027799	0.84[AMR][1000 genomes]
rs17027806	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4699355	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4699657	0.92[EUR][1000 genomes]
rs4699658	0.92[EUR][1000 genomes]
rs62323627	0.84[AMR][1000 genomes]
rs62323629	0.81[AMR][1000 genomes]
rs62323632	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62323635	0.84[EUR][1000 genomes]
rs62323638	0.83[EUR][1000 genomes]
rs62323639	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62323640	0.92[EUR][1000 genomes]
rs7670467	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7670572	0.92[EUR][1000 genomes]
rs846010	0.80[EUR][1000 genomes]
rs9997807	0.81[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	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
2	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
3	esv2760882	chr4:99460485-99521345	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99490800-99509000	Weak transcription	HSMM	muscle
2	chr4:99497200-99510200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:99504200-99509200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:99505000-99510400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:99505200-99510200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:99506400-99509600	Enhancers	Fetal Brain Male	brain
7	chr4:99506800-99508400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:99506800-99509600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:99507000-99508400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:99507000-99508400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr4:99507000-99508400	Enhancers	Fetal Lung	lung
12	chr4:99507000-99508600	Enhancers	Fetal Heart	heart
13	chr4:99507000-99509000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:99507000-99513600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:99507200-99508400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:99507200-99508600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:99507200-99508600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:99507200-99509400	Weak transcription	NHDF-Ad	bronchial
19	chr4:99507400-99510200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:99507600-99508600	Enhancers	Ovary	ovary
21	chr4:99507600-99509000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr4:99507600-99510400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:99507800-99508400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr4:99507800-99508400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:99507800-99508400	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr4:99507800-99508400	Flanking Active TSS	Brain Substantia Nigra	brain
27	chr4:99507800-99508600	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr4:99507800-99508800	Flanking Active TSS	Fetal Brain Female	brain
29	chr4:99507800-99509000	Enhancers	NH-A	brain
30	chr4:99507800-99509400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr4:99508000-99508400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:99508000-99508400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:99508000-99508400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr4:99508000-99508400	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr4:99508000-99508400	Enhancers	Esophagus	oesophagus
36	chr4:99508000-99508400	Enhancers	Fetal Muscle Trunk	muscle
37	chr4:99508000-99508400	Enhancers	Fetal Muscle Leg	muscle
38	chr4:99508000-99508400	Enhancers	Right Ventricle	heart
39	chr4:99508000-99508400	Enhancers	Spleen	Spleen
40	chr4:99508000-99508600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr4:99508000-99508600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr4:99508000-99508600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr4:99508000-99508600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:99508000-99508600	Enhancers	Right Atrium	heart
45	chr4:99508000-99508800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr4:99508000-99508800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:99508000-99508800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:99508000-99509400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:99508000-99509600	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr4:99508200-99508400	Enhancers	Sigmoid Colon	Sigmoid Colon

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