Variant report

Variant	rs12672569
Chromosome Location	chr7:16828415-16828416
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10215783	0.90[ASN][1000 genomes]
rs2272247	0.90[ASN][1000 genomes]
rs28475089	0.90[ASN][1000 genomes]
rs28945083	0.90[ASN][1000 genomes]
rs3807498	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73073521	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs73073523	0.86[ASN][1000 genomes]
rs73073525	0.86[ASN][1000 genomes]
rs73073529	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73073541	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1024059	chr7:16639432-16836425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16805000-16832400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:16811400-16833600	Weak transcription	Fetal Muscle Leg	muscle
3	chr7:16814000-16834600	Weak transcription	Fetal Brain Male	brain
4	chr7:16814400-16843800	Weak transcription	Small Intestine	intestine
5	chr7:16815000-16838000	Weak transcription	K562	blood
6	chr7:16816800-16835000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:16818600-16829000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:16819000-16830600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:16819800-16838000	Weak transcription	Placenta	Placenta
10	chr7:16820200-16835400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:16822600-16829600	Weak transcription	NH-A	brain
12	chr7:16823400-16830000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:16823600-16829400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:16823600-16835400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:16823600-16843600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:16825200-16828800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:16825400-16828600	Enhancers	Fetal Intestine Large	intestine
18	chr7:16825800-16829400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:16825800-16830600	Weak transcription	HSMMtube	muscle
20	chr7:16825800-16831800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:16825800-16832400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:16825800-16833600	Weak transcription	Gastric	stomach
23	chr7:16825800-16834400	Weak transcription	Fetal Brain Female	brain
24	chr7:16825800-16834600	Weak transcription	Fetal Stomach	stomach
25	chr7:16825800-16836600	Weak transcription	Left Ventricle	heart
26	chr7:16826400-16830800	Weak transcription	A549	lung
27	chr7:16827400-16837000	Weak transcription	Primary B cells from cord blood	blood
28	chr7:16827600-16829200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr7:16827600-16832200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr7:16827600-16835400	Weak transcription	Stomach Mucosa	stomach
31	chr7:16827800-16831400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:16827800-16832000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr7:16828000-16834400	Weak transcription	Fetal Intestine Small	intestine

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