Variant report

Variant	rs7348023
Chromosome Location	chr20:16439550-16439551
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	chr20:16421661..16423845-chr20:16436062..16440275,3	K562	blood:
2	chr20:16409346..16410888-chr20:16438962..16441611,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1012906	0.83[EUR][1000 genomes]
rs1014887	0.83[EUR][1000 genomes]
rs16997644	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6034487	0.90[EUR][1000 genomes]
rs62198127	0.83[EUR][1000 genomes]
rs62198128	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8120085	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833931	chr20:16308276-16460596	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16392200-16453000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr20:16400000-16440000	Weak transcription	NHEK	skin
3	chr20:16409200-16443600	Weak transcription	Gastric	stomach
4	chr20:16410200-16455800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr20:16410200-16473200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr20:16410600-16455400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr20:16411200-16440000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr20:16411200-16455200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr20:16414800-16443600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr20:16420200-16440000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr20:16420400-16453000	Weak transcription	Left Ventricle	heart
12	chr20:16420800-16471400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr20:16425200-16440000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr20:16425800-16443400	Weak transcription	Ovary	ovary
15	chr20:16426600-16439800	Weak transcription	Adipose Nuclei	Adipose
16	chr20:16429000-16443400	Weak transcription	Psoas Muscle	Psoas
17	chr20:16429400-16440000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr20:16431400-16443400	Weak transcription	Pancreas	Pancrea
19	chr20:16431400-16454600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr20:16431400-16455400	Weak transcription	Fetal Lung	lung
21	chr20:16431400-16456000	Weak transcription	Liver	Liver
22	chr20:16431400-16463000	Weak transcription	Aorta	Aorta
23	chr20:16431400-16508200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr20:16431600-16450800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr20:16431800-16439800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr20:16431800-16458400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr20:16431800-16462200	Weak transcription	Primary T cells from cord blood	blood
28	chr20:16432400-16440000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr20:16432600-16440400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr20:16433000-16456400	Weak transcription	Primary B cells from cord blood	blood
31	chr20:16436600-16443600	Weak transcription	Fetal Intestine Small	intestine
32	chr20:16436600-16445200	Weak transcription	Fetal Intestine Large	intestine
33	chr20:16436600-16464800	Weak transcription	Small Intestine	intestine
34	chr20:16437600-16453000	Weak transcription	Esophagus	oesophagus
35	chr20:16438000-16440000	Enhancers	HSMM	muscle
36	chr20:16438200-16440200	Enhancers	HSMMtube	muscle
37	chr20:16438200-16440600	Enhancers	Fetal Muscle Leg	muscle
38	chr20:16438400-16439600	Enhancers	Brain Germinal Matrix	brain
39	chr20:16438600-16440400	Enhancers	Brain Anterior Caudate	brain
40	chr20:16438600-16440800	Enhancers	Brain Substantia Nigra	brain
41	chr20:16439200-16440600	Enhancers	Brain Hippocampus Middle	brain
42	chr20:16439200-16440800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr20:16439400-16440000	Enhancers	Fetal Brain Male	brain
44	chr20:16439400-16440600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr20:16439400-16440600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr20:16439400-16440800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr20:16439400-16440800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr20:16439400-16440800	Enhancers	Colon Smooth Muscle	Colon
49	chr20:16439400-16440800	Enhancers	Rectal Smooth Muscle	rectum

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