Variant report

Variant	rs7666172
Chromosome Location	chr4:99510113-99510114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99502636..99505543-chr4:99509229..99510735,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11930706	1.00[CHB][hapmap]
rs1528548	1.00[CHB][hapmap]
rs17027858	1.00[MEX][hapmap]
rs72902280	1.00[AMR][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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99497200-99510200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:99505000-99510400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:99505200-99510200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:99507000-99513600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:99507400-99510200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:99507600-99510400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr4:99508200-99510800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:99508200-99513600	Weak transcription	NHEK	skin
9	chr4:99508400-99510200	Weak transcription	Spleen	Spleen
10	chr4:99508400-99510400	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:99508400-99510600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:99508400-99511200	Weak transcription	Fetal Lung	lung
13	chr4:99508600-99512000	Weak transcription	Ovary	ovary
14	chr4:99508600-99512800	Weak transcription	Fetal Heart	heart
15	chr4:99508800-99523400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:99509400-99510200	Weak transcription	HSMM	muscle
17	chr4:99509400-99510800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:99509400-99520600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:99509600-99510400	Enhancers	Brain Angular Gyrus	brain
20	chr4:99509600-99510400	Enhancers	Brain Anterior Caudate	brain
21	chr4:99509600-99510400	Enhancers	Brain Substantia Nigra	brain
22	chr4:99509600-99510800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr4:99509600-99511000	Enhancers	Brain Germinal Matrix	brain
24	chr4:99509600-99511000	Enhancers	Brain Hippocampus Middle	brain
25	chr4:99509600-99511200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:99509600-99520200	Weak transcription	NH-A	brain
27	chr4:99509600-99522200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr4:99509800-99510800	Enhancers	HMEC	breast
29	chr4:99509800-99511000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr4:99509800-99511200	Weak transcription	NHDF-Ad	bronchial
31	chr4:99509800-99511400	Enhancers	Fetal Brain Female	brain
32	chr4:99509800-99512000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr4:99510000-99510400	Enhancers	Brain Cingulate Gyrus	brain
34	chr4:99510000-99510600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:99510000-99511000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:99510000-99511000	Enhancers	Fetal Brain Male	brain

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