Variant report

Variant	rs7729027
Chromosome Location	chr5:112410947-112410948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12108764	1.00[AFR][1000 genomes]
rs4235782	0.83[AFR][1000 genomes]
rs4397122	1.00[AFR][1000 genomes]
rs4705540	1.00[AFR][1000 genomes]
rs4705771	1.00[AFR][1000 genomes]
rs6594681	1.00[AFR][1000 genomes]
rs6894711	0.83[AFR][1000 genomes]
rs6898395	1.00[AFR][1000 genomes]
rs7729055	1.00[AFR][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	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv599395	chr5:112370311-112428869	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1018344	chr5:112390951-112458853	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112363800-112417800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr5:112371400-112423800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:112379600-112424200	Weak transcription	Psoas Muscle	Psoas
4	chr5:112384000-112453000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:112384200-112411000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:112391600-112439000	Weak transcription	Gastric	stomach
7	chr5:112395000-112411600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:112395600-112417600	Weak transcription	Brain Angular Gyrus	brain
9	chr5:112395600-112420400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:112396000-112417200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:112398800-112412400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:112399000-112432800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:112399200-112417600	Weak transcription	Fetal Kidney	kidney
14	chr5:112399800-112441800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:112400000-112417600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr5:112400200-112411400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:112400200-112416800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:112400200-112416800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:112400400-112411200	Weak transcription	Thymus	Thymus
20	chr5:112400800-112423800	Weak transcription	Aorta	Aorta
21	chr5:112402600-112425600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:112403800-112418400	Weak transcription	Brain Substantia Nigra	brain
23	chr5:112404000-112413800	Weak transcription	Brain Hippocampus Middle	brain
24	chr5:112404000-112426000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:112404400-112411800	Strong transcription	Stomach Smooth Muscle	stomach
26	chr5:112404400-112428000	Weak transcription	Placenta	Placenta
27	chr5:112404400-112436800	Weak transcription	Fetal Brain Male	brain
28	chr5:112404600-112411200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:112404600-112411600	Weak transcription	Fetal Lung	lung
30	chr5:112404600-112417000	Weak transcription	HSMMtube	muscle
31	chr5:112404800-112425400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr5:112406000-112416800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr5:112406800-112413600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:112406800-112416800	Weak transcription	HMEC	breast
35	chr5:112407000-112416800	Weak transcription	NHEK	skin
36	chr5:112407200-112411600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:112407200-112417000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr5:112407400-112418000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr5:112407800-112411200	Enhancers	Primary T cells from cord blood	blood
40	chr5:112408200-112411200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr5:112408200-112411600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:112408400-112411600	Enhancers	Primary T cells fromperipheralblood	blood
43	chr5:112408600-112411200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr5:112408800-112411600	Strong transcription	Left Ventricle	heart
45	chr5:112409000-112419600	Weak transcription	Fetal Heart	heart
46	chr5:112409200-112416600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr5:112409200-112416600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr5:112409400-112416600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr5:112409400-112416800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr5:112410000-112411800	Strong transcription	Liver	Liver

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