Variant report

Variant	rs17027752
Chromosome Location	chr4:99490042-99490043
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	chr4:99488456..99490510-chr4:99608692..99610309,2	K562	blood:
2	chr4:99483863..99486365-chr4:99487741..99490347,3	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10001528	0.84[AFR][1000 genomes]
rs28635613	0.81[AFR][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:74 , 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	chr4:99479000-99490200	Weak transcription	HSMMtube	muscle
3	chr4:99479000-99506400	Weak transcription	Aorta	Aorta
4	chr4:99483200-99495800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:99483400-99498800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:99484200-99495400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:99485000-99490800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr4:99485000-99501400	Weak transcription	HUVEC	blood vessel
9	chr4:99485400-99491000	Enhancers	Fetal Brain Male	brain
10	chr4:99485400-99495000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr4:99486000-99491000	Enhancers	Thymus	Thymus
12	chr4:99486000-99491400	Enhancers	Fetal Muscle Leg	muscle
13	chr4:99487200-99500000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr4:99487400-99495000	Weak transcription	Primary T cells from cord blood	blood
15	chr4:99487600-99490200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:99487600-99492200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr4:99487800-99491400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr4:99487800-99492200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:99487800-99498600	Weak transcription	NHLF	lung
20	chr4:99488000-99492000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:99488000-99492600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:99488000-99495200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:99488000-99495200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr4:99488000-99495400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr4:99488000-99499000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:99488000-99499200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:99488200-99490400	Weak transcription	Fetal Brain Female	brain
28	chr4:99488200-99493800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr4:99488200-99494200	Enhancers	Brain Angular Gyrus	brain
30	chr4:99488200-99495200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr4:99488200-99495400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:99488200-99495400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr4:99488200-99495800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:99488200-99500200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:99488400-99492800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr4:99488400-99493000	Enhancers	Brain Hippocampus Middle	brain
37	chr4:99488400-99493600	Enhancers	Brain Cingulate Gyrus	brain
38	chr4:99488400-99493600	Weak transcription	Fetal Lung	lung
39	chr4:99488400-99495400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr4:99488600-99493400	Weak transcription	Fetal Stomach	stomach
41	chr4:99489000-99498800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:99489400-99490800	Enhancers	Fetal Muscle Trunk	muscle
43	chr4:99489600-99490600	Enhancers	Fetal Thymus	thymus
44	chr4:99489600-99490800	Enhancers	Placenta	Placenta
45	chr4:99489600-99491000	Enhancers	Fetal Heart	heart
46	chr4:99489600-99492800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:99489600-99493600	Enhancers	Brain Substantia Nigra	brain
48	chr4:99489800-99490200	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr4:99489800-99490600	Enhancers	Colon Smooth Muscle	Colon
50	chr4:99489800-99490600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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