Variant report

Variant	rs6677514
Chromosome Location	chr1:220473809-220473810
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220471708..220473237-chr1:220473384..220475197,2	K562	blood:
2	chr1:220445466..220447229-chr1:220473362..220475083,2	K562	blood:
3	chr1:220463505..220465025-chr1:220472451..220474318,2	K562	blood:
4	chr1:220472146..220476352-chr1:220476366..220479931,4	K562	blood:
5	chr1:220444172..220447229-chr1:220471859..220475083,5	K562	blood:
6	chr1:220466641..220469132-chr1:220471949..220474218,2	K562	blood:

Variant related genes	Relation type
ENSG00000118873	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1912814	0.93[AFR][1000 genomes]
rs2102569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2667964	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220471600-220474000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr1:220472600-220474000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:220472600-220474400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:220473200-220474000	Enhancers	Placenta	Placenta
5	chr1:220473200-220474800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:220473400-220474000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:220473400-220474000	Enhancers	Osteobl	bone
8	chr1:220473400-220474400	Enhancers	Fetal Muscle Leg	muscle
9	chr1:220473400-220474600	Enhancers	Fetal Muscle Trunk	muscle
10	chr1:220473400-220474800	Enhancers	HUVEC	blood vessel
11	chr1:220473400-220475200	Enhancers	NH-A	brain
12	chr1:220473400-220475400	Enhancers	NHDF-Ad	bronchial
13	chr1:220473600-220474000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:220473600-220474000	Enhancers	Brain Germinal Matrix	brain
15	chr1:220473600-220474000	Enhancers	NHEK	skin
16	chr1:220473600-220474200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr1:220473600-220474200	Enhancers	Fetal Stomach	stomach
18	chr1:220473600-220474200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr1:220473600-220474400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr1:220473600-220474400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:220473600-220474400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:220473600-220474400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:220473600-220474400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:220473600-220474400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:220473600-220474400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr1:220473600-220474400	Enhancers	HMEC	breast
27	chr1:220473600-220474400	Enhancers	NHLF	lung
28	chr1:220473600-220474600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:220473600-220474600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:220473800-220474000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr1:220473800-220474000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:220473800-220474000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:220473800-220474000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:220473800-220474000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:220473800-220474000	Enhancers	Brain Angular Gyrus	brain
36	chr1:220473800-220474000	Enhancers	Colon Smooth Muscle	Colon
37	chr1:220473800-220474000	Active TSS	Fetal Brain Male	brain
38	chr1:220473800-220474000	Enhancers	Gastric	stomach
39	chr1:220473800-220474000	Enhancers	Placenta Amnion	Placenta Amnion
40	chr1:220473800-220474000	Enhancers	A549	lung
41	chr1:220473800-220474200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:220473800-220474200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:220473800-220474200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:220473800-220474200	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr1:220473800-220474200	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr1:220473800-220474200	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr1:220473800-220474200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr1:220473800-220474200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:220473800-220474200	Enhancers	Fetal Brain Female	brain
50	chr1:220473800-220474200	Flanking Active TSS	Rectal Smooth Muscle	rectum

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