Variant report

Variant	rs17027731
Chromosome Location	chr4:99486326-99486327
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99483863..99486365-chr4:99487741..99490347,3	K562	blood:
2	chr4:99485403..99488335-chr4:99490236..99493906,4	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1881450	0.87[AMR][1000 genomes]
rs4554081	1.00[ASN][1000 genomes]
rs4699351	0.95[ASN][1000 genomes]
rs4699655	0.95[ASN][1000 genomes]
rs7679987	0.90[ASN][1000 genomes]
rs7691924	0.84[AMR][1000 genomes];0.90[ASN][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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99466800-99501600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:99477400-99486800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:99477400-99487600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:99477400-99487600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:99479000-99486800	Weak transcription	Fetal Lung	lung
6	chr4:99479000-99490200	Weak transcription	HSMMtube	muscle
7	chr4:99479000-99506400	Weak transcription	Aorta	Aorta
8	chr4:99479200-99486800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:99479200-99486800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr4:99479200-99487000	Weak transcription	NH-A	brain
11	chr4:99479200-99487200	Weak transcription	NHLF	lung
12	chr4:99479800-99486800	Weak transcription	Spleen	Spleen
13	chr4:99479800-99487000	Weak transcription	NHDF-Ad	bronchial
14	chr4:99480000-99486800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:99480400-99486800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:99480400-99487200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:99481200-99486800	Weak transcription	Brain Germinal Matrix	brain
18	chr4:99481800-99486800	Weak transcription	HSMM	muscle
19	chr4:99482800-99486600	Weak transcription	Fetal Stomach	stomach
20	chr4:99483000-99487000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:99483200-99487600	Weak transcription	Esophagus	oesophagus
22	chr4:99483200-99495800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:99483400-99486800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:99483400-99486800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:99483400-99486800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:99483400-99487000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr4:99483400-99498800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:99484000-99487600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:99484200-99495400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:99484800-99487200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr4:99484800-99487800	Enhancers	Brain Substantia Nigra	brain
32	chr4:99485000-99490800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr4:99485000-99501400	Weak transcription	HUVEC	blood vessel
34	chr4:99485200-99487000	Enhancers	Brain Cingulate Gyrus	brain
35	chr4:99485200-99487200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr4:99485200-99487800	Enhancers	Brain Anterior Caudate	brain
37	chr4:99485400-99488000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr4:99485400-99491000	Enhancers	Fetal Brain Male	brain
39	chr4:99485400-99495000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr4:99485600-99487400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:99485600-99487600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:99485600-99488000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr4:99485600-99488200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr4:99485600-99488400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr4:99485600-99489200	Enhancers	Fetal Heart	heart
46	chr4:99485800-99488000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:99485800-99488400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr4:99486000-99486800	Enhancers	Brain Angular Gyrus	brain
49	chr4:99486000-99487000	Enhancers	Brain Hippocampus Middle	brain
50	chr4:99486000-99487000	Enhancers	Colon Smooth Muscle	Colon

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