Variant report

Variant	rs16823461
Chromosome Location	chr1:184758452-184758453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184721692..184724748-chr1:184755554..184760057,4	MCF-7	breast:
2	chr1:184752401..184756429-chr1:184757570..184760827,3	K562	blood:
3	chr1:184758252..184761328-chr1:184761790..184766637,6	K562	blood:
4	chr1:184756736..184760849-chr1:184761406..184764611,5	K562	blood:
5	chr1:184725745..184728657-chr1:184756568..184759148,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116406	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16823601	1.00[EUR][1000 genomes]
rs16823603	1.00[EUR][1000 genomes]
rs16823613	1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2273851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28927681	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3737948	1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3737953	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3737954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7528487	0.80[ASN][1000 genomes]
rs7528626	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184743000-184761600	Weak transcription	Aorta	Aorta
2	chr1:184750600-184760800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:184752200-184761800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:184754400-184758600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:184754400-184761200	Weak transcription	Left Ventricle	heart
6	chr1:184754600-184759000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:184754800-184759000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:184755200-184759000	Weak transcription	Gastric	stomach
9	chr1:184756000-184759000	Weak transcription	Liver	Liver
10	chr1:184756200-184759400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:184756200-184761000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:184756200-184761400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:184756200-184762000	Weak transcription	GM12878-XiMat	blood
14	chr1:184756400-184759000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:184756400-184760800	Weak transcription	Psoas Muscle	Psoas
16	chr1:184756800-184794000	Weak transcription	Thymus	Thymus
17	chr1:184757000-184759400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr1:184757000-184764200	Weak transcription	Fetal Stomach	stomach
19	chr1:184757200-184761200	Weak transcription	Spleen	Spleen
20	chr1:184757200-184761400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:184757200-184761400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:184757400-184759400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
23	chr1:184757600-184759800	Strong transcription	Stomach Smooth Muscle	stomach
24	chr1:184757600-184761000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:184757600-184761200	Weak transcription	NHEK	skin
26	chr1:184757600-184761400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr1:184757600-184763400	Enhancers	Stomach Mucosa	stomach
28	chr1:184757800-184760800	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:184758000-184758800	Enhancers	K562	blood
30	chr1:184758000-184759400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr1:184758200-184758600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr1:184758200-184758800	Weak transcription	Fetal Muscle Leg	muscle
33	chr1:184758200-184759600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:184758200-184760000	Enhancers	Adipose Nuclei	Adipose
35	chr1:184758200-184760800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:184758400-184758800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:184758400-184759200	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr1:184758400-184759800	Enhancers	Pancreas	Pancrea
39	chr1:184758400-184761400	Enhancers	NHDF-Ad	bronchial

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