Variant report

Variant	rs16847506
Chromosome Location	chr1:227441960-227441961
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	chr1:227441285..227444497-chr1:227452902..227455834,3	K562	blood:

Variant related genes	Relation type
ENSG00000236636	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11807166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807511	1.00[AMR][1000 genomes]
rs11807555	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11808055	1.00[EUR][1000 genomes]
rs11808370	1.00[EUR][1000 genomes]
rs11808613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11810417	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1355816	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847132	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35099852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4364839	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57660509	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57717956	1.00[EUR][1000 genomes]
rs57895961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58077821	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59396012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59523055	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60039374	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60423930	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60906739	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61494318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61588040	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6688385	1.00[EUR][1000 genomes]
rs6696713	1.00[EUR][1000 genomes]
rs6699740	1.00[EUR][1000 genomes]
rs73086744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088692	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090609	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73092512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094358	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094365	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094366	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094390	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73096314	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098345	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098350	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098391	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73100303	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102326	1.00[EUR][1000 genomes]
rs73102327	1.00[EUR][1000 genomes]
rs73102341	1.00[EUR][1000 genomes]
rs73102913	1.00[AMR][1000 genomes]
rs73102948	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102965	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74143320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv549271	chr1:227411003-227581017	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227414000-227459200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:227414200-227453800	Weak transcription	HSMM	muscle
3	chr1:227415800-227456800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:227425400-227445200	Weak transcription	Osteobl	bone
5	chr1:227431600-227486200	Weak transcription	NHDF-Ad	bronchial
6	chr1:227431800-227443000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:227432000-227459200	Weak transcription	Fetal Lung	lung
8	chr1:227432200-227455400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:227432600-227448000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:227432800-227442400	Weak transcription	K562	blood
11	chr1:227432800-227446000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:227432800-227455600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:227433000-227446000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:227433000-227446000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:227433000-227469000	Weak transcription	Aorta	Aorta
16	chr1:227433200-227452800	Weak transcription	Ovary	ovary
17	chr1:227434000-227442200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:227434000-227444200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:227434000-227446800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:227434000-227447000	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:227434000-227453400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:227434200-227442800	Weak transcription	Fetal Stomach	stomach
23	chr1:227434200-227455400	Weak transcription	Left Ventricle	heart
24	chr1:227434200-227455400	Weak transcription	Right Ventricle	heart
25	chr1:227434200-227455800	Weak transcription	Adipose Nuclei	Adipose
26	chr1:227434400-227442800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:227434400-227443400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:227434400-227446000	Weak transcription	Brain Substantia Nigra	brain
29	chr1:227434600-227468800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:227434800-227443000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:227434800-227458400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:227435000-227457000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:227435600-227453600	Weak transcription	Fetal Intestine Small	intestine
34	chr1:227437800-227443400	Weak transcription	Fetal Brain Female	brain
35	chr1:227438800-227448000	Weak transcription	Psoas Muscle	Psoas
36	chr1:227438800-227449400	Weak transcription	Right Atrium	heart
37	chr1:227440000-227456600	Weak transcription	HepG2	liver
38	chr1:227440200-227442800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:227440200-227456800	Weak transcription	HUVEC	blood vessel
40	chr1:227441200-227442600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:227441200-227450000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:227441600-227442200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:227441600-227442400	Enhancers	Brain Angular Gyrus	brain
44	chr1:227441800-227449600	Weak transcription	A549	lung
45	chr1:227441800-227452000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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