Variant report

Variant	rs16845999
Chromosome Location	chr1:161760669-161760670
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	chr1:161759893..161762009-chr1:162530060..162532970,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259788	Chromatin interaction
ENSG00000117143	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16846658	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16847240	1.00[AFR][1000 genomes]
rs16853992	0.88[AFR][1000 genomes]
rs16859709	0.88[AFR][1000 genomes]
rs2340714	1.00[AFR][1000 genomes]
rs4517327	0.88[AFR][1000 genomes]
rs61035948	1.00[AFR][1000 genomes];1.00[AMR][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	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161737000-161765600	Weak transcription	Aorta	Aorta
2	chr1:161737200-161761600	Weak transcription	Fetal Brain Male	brain
3	chr1:161737200-161761600	Weak transcription	Right Ventricle	heart
4	chr1:161737200-161775200	Weak transcription	Fetal Stomach	stomach
5	chr1:161737200-161775800	Weak transcription	Stomach Mucosa	stomach
6	chr1:161737200-161780000	Weak transcription	Fetal Intestine Small	intestine
7	chr1:161737600-161762000	Weak transcription	Fetal Lung	lung
8	chr1:161737600-161764600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:161738600-161794000	Weak transcription	Pancreas	Pancrea
10	chr1:161738600-161795600	Weak transcription	Gastric	stomach
11	chr1:161740400-161761800	Weak transcription	Ovary	ovary
12	chr1:161742400-161773000	Weak transcription	Small Intestine	intestine
13	chr1:161745400-161780000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:161747200-161761600	Weak transcription	Thymus	Thymus
15	chr1:161747200-161763000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:161747600-161773800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:161748000-161778800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr1:161748200-161780000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:161749000-161761600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:161749000-161777000	Strong transcription	Liver	Liver
21	chr1:161749200-161780000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr1:161749400-161760800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:161750000-161762000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:161750000-161768200	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr1:161750600-161774800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:161751800-161773800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:161752200-161761400	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:161752200-161773400	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr1:161752200-161780000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:161752400-161762000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:161752400-161767800	Strong transcription	Dnd41	blood
32	chr1:161752600-161762000	Weak transcription	NHLF	lung
33	chr1:161752600-161776000	Weak transcription	Fetal Heart	heart
34	chr1:161753000-161761400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr1:161753000-161762000	Weak transcription	Brain Substantia Nigra	brain
36	chr1:161753000-161771800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr1:161753200-161765400	Weak transcription	Brain Angular Gyrus	brain
38	chr1:161753200-161780000	Weak transcription	Esophagus	oesophagus
39	chr1:161753400-161765400	Weak transcription	Lung	lung
40	chr1:161753400-161800600	Weak transcription	Spleen	Spleen
41	chr1:161754200-161761800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:161754400-161762200	Weak transcription	HSMMtube	muscle
43	chr1:161754600-161761600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:161755000-161761000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:161755000-161761200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:161755000-161761400	Weak transcription	Brain Anterior Caudate	brain
47	chr1:161755000-161761600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:161755000-161761600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:161755000-161793600	Weak transcription	Colonic Mucosa	Colon
50	chr1:161755200-161761400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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