Variant report

Variant	rs16823601
Chromosome Location	chr1:184807028-184807029
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12073168	0.92[CHD][hapmap]
rs16823461	1.00[EUR][1000 genomes]
rs16823603	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823613	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16823651	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs2273851	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs234669	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[ASN][1000 genomes]
rs3737948	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[EUR][1000 genomes]
rs3737953	1.00[EUR][1000 genomes]
rs3737954	1.00[EUR][1000 genomes]
rs6662843	1.00[CHB][hapmap];0.93[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv508677	chr1:184778620-184825302	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv3843	chr1:184798670-184858114	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184768000-184809200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:184773200-184809400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr1:184783000-184807800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:184783200-184809200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:184790200-184809600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:184792800-184810000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr1:184793000-184809600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:184793000-184813000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:184793400-184809200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:184795400-184822600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:184797200-184830000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:184797600-184807800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:184797800-184807400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:184797800-184807400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:184798000-184807200	Weak transcription	NHEK	skin
16	chr1:184799400-184807600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:184800000-184809400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:184800600-184820800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:184801000-184813400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:184801200-184807400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:184801200-184807600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:184801200-184807800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:184801200-184810000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:184801800-184821000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:184802000-184807600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr1:184805000-184807200	Enhancers	NHDF-Ad	bronchial
27	chr1:184805000-184807400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:184805200-184807200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:184805200-184808400	Enhancers	Duodenum Mucosa	Duodenum
30	chr1:184805200-184808400	Enhancers	Fetal Intestine Large	intestine
31	chr1:184805200-184808400	Enhancers	Fetal Intestine Small	intestine
32	chr1:184805200-184808800	Enhancers	Colon Smooth Muscle	Colon
33	chr1:184805200-184808800	Enhancers	Rectal Smooth Muscle	rectum
34	chr1:184805400-184807400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr1:184805400-184808000	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr1:184805400-184808400	Enhancers	Adipose Nuclei	Adipose
37	chr1:184805400-184808400	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr1:184805400-184808400	Enhancers	Osteobl	bone
39	chr1:184805400-184808600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr1:184805400-184808800	Enhancers	Fetal Muscle Leg	muscle
41	chr1:184805600-184808400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr1:184805600-184808400	Enhancers	Stomach Smooth Muscle	stomach
43	chr1:184805800-184808400	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr1:184806200-184807800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:184806200-184808200	Enhancers	Left Ventricle	heart
46	chr1:184806200-184808200	Enhancers	Right Atrium	heart
47	chr1:184806200-184808200	Enhancers	Right Ventricle	heart
48	chr1:184806200-184808400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr1:184806200-184808400	Enhancers	NHLF	lung
50	chr1:184806200-184808800	Enhancers	Psoas Muscle	Psoas

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