Variant report

Variant	rs4235789
Chromosome Location	chr5:112417363-112417364
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	chr5:112372883..112375761-chr5:112416823..112419304,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1822490	0.80[AMR][1000 genomes]
rs28624929	0.91[ASN][1000 genomes]
rs57044242	0.84[AMR][1000 genomes]
rs57876684	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58169183	0.84[AMR][1000 genomes]
rs58572166	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58986551	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59494679	0.84[AMR][1000 genomes]
rs60498444	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60853585	0.84[AMR][1000 genomes]
rs61708522	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73239115	0.81[AMR][1000 genomes]
rs7708630	0.82[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.91[ASN][1000 genomes]
rs7708913	0.91[ASN][1000 genomes]
rs7722357	0.84[AMR][1000 genomes]
rs7735738	0.81[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	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:86 , 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	chr5:112391600-112439000	Weak transcription	Gastric	stomach
6	chr5:112395600-112417600	Weak transcription	Brain Angular Gyrus	brain
7	chr5:112395600-112420400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:112399000-112432800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:112399200-112417600	Weak transcription	Fetal Kidney	kidney
10	chr5:112399800-112441800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:112400000-112417600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:112400800-112423800	Weak transcription	Aorta	Aorta
13	chr5:112402600-112425600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:112403800-112418400	Weak transcription	Brain Substantia Nigra	brain
15	chr5:112404000-112426000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr5:112404400-112428000	Weak transcription	Placenta	Placenta
17	chr5:112404400-112436800	Weak transcription	Fetal Brain Male	brain
18	chr5:112404800-112425400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr5:112407400-112418000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:112409000-112419600	Weak transcription	Fetal Heart	heart
21	chr5:112411000-112431800	Weak transcription	Spleen	Spleen
22	chr5:112411200-112417600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:112411200-112425800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr5:112411200-112443400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:112411600-112417600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:112411600-112417600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:112411600-112417600	Weak transcription	Adipose Nuclei	Adipose
28	chr5:112411600-112417600	Weak transcription	Right Ventricle	heart
29	chr5:112411600-112425800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr5:112411800-112417400	Weak transcription	Fetal Stomach	stomach
31	chr5:112411800-112417800	Weak transcription	Primary T cells from cord blood	blood
32	chr5:112411800-112418200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:112411800-112420400	Weak transcription	Pancreas	Pancrea
34	chr5:112411800-112428000	Weak transcription	Fetal Intestine Large	intestine
35	chr5:112412000-112417400	Weak transcription	Esophagus	oesophagus
36	chr5:112412000-112417600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:112412000-112435200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr5:112412200-112417400	Weak transcription	Fetal Lung	lung
39	chr5:112412200-112432400	Weak transcription	Fetal Intestine Small	intestine
40	chr5:112414200-112425600	Weak transcription	Brain Hippocampus Middle	brain
41	chr5:112416200-112421000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr5:112416400-112417600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:112416600-112417600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr5:112416600-112417600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr5:112416600-112417600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr5:112416600-112417600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:112416600-112417600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:112416600-112417600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:112416600-112417800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr5:112416600-112417800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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